Celltex Under Fire by the FDA

A week ago the FDA released its 483 inspection report relating to Celltex Therapeutics Corporation’s practices banking and facilitating the administration of adult stem cells for therapeutic purposes.  News sources (here and here) and the Center for Genetics and Society published portions of its startling findings.  Celltex processes, multiplies, distributes, and facilitates the injections of mesenchymal cells derived from adipose tissue using technology licensed from RNL Bio based out of Seoul, South Korea.  Prominent physician Carl Elliot, MD, PhD and bioethicist Leigh Turner, PhD have both expressed public concern about Celltex’s seemingly flagrant circumvention of FDA regulatory standards, licensing partnership with a controversial corporation, and conflict of interest in the oversight of its operations.

Since its opening in December 2011, Celltex is the largest stem cell bank in the US and facilitates the process and supplies the product for individuals seeking to receive stem cell injections, charging a hefty fee ranging from an estimated $20,000-$30,000 for its services.  It has garnered significant publicity arising in part from Texas Governor Rick Perry’s support, his personal use of stem cell injections for a back injury, and Perry’s push for state legislation to create a state adult stem cell banking initiative and revise Texas Medical Board regulations relating to physicians’ ability to administer non-FDA approved stem cell “treatments” to their patients.

Back in February, Turner compiled a letter of listed concerns relating to Celltex’s practices, requesting that the FDA investigate the company’s practices.  Turner and other media sources have pointed out the following, along with other issues:

Celltex has not offered substantial data or clinical trials to show the stem cells it offers are safe and efficacious.   In January 2012 the FDA issued a Consumer Health Information guide cautioning consumers to make sure that any stem cell treatment they consider has been approved by the FDA or is subject to a current protocol submitted to the FDA to ensure that the stem cells are safe, effective, and have undergone adequate and well controlled clinical trials.  Furthermore, the FDA must oversee the manufacturing process to assure the products’ safety, purity, and potency.

If individuals are receiving experimental injections, Celltex and the physician should thoroughly explain that the procedure is experimental medical research rather proven clinical medicine and the risks associated with the procedure.  Both the FDA and physician commentators have noted that patients seeking to have cells injected face safety risks arising from the procedure, even if they are the patient’s own stem cells and the corporation follows good manufacturing practices.  Jamshid Lofti, MD, a neurologist who has administered injections to more than 20 patients has admitted the need for controlled trials, but has problematically downplayed such risks, asserting that “the worst that can happen is it won’t work.”  Not according to the FDA and numerous other physicians, who list potential risks to include tumors, cancer, and even death.  Such risks are at the forefront of investigation (see here and here) into partner company RNL Bio’s practices in South Korea, where former patients and their families have come forth with allegations of cancer and death linked to receipt of RNL Bio’s stem cells. 

Celltex contends that it merely processes and expands individuals own stem cells, only minimally manipulates the cells, and is currently coordinating prospective clinical studies.  According to Nature, Celltex coordinates with physicians and pays physicians $500 per injection, and each patient receives at least three injections.  Celltex argues that the process of culturing and preparing the stem cells does not constitute the manufacture of a biological drug, so the process stands outside the scope of FDA regulations normally required for biological drugs.  A Colorado court is currently examining this issue arising from the practices of another company Regenerative Sciences, who proffered a similar argument to avoid applicability of FDA requirements. 

However, Rita Chappelle, a spokesperson for the FDA’s Center for Biological Evaluation and Research asserts that any “expanded” cells cannot be considered minimally manipulated.  Importantly, the FDA’s 483 inspection form classifies Celltex as a biological drug manufacturer in the business of manufacturing mesenchymal  stem cells rather than minimally manipulating stem cells.  Independently of how Celltex classifies its processes, the 483 report made news headlines based on the number of alarming deficiencies in the processing and manufacturing procedures.  It found Celltex failed to validate processes to prevent contamination; to distinguish between components being quarantined or approved; to routinely calibrate and check the equipment; to review quality processing systems; and could not guarantee the sterility, uniformity or integrity of the cells.  Celltex’s press release in response is here.

Had there been any uncertainty about the scope of FDA regulation, the Consumer Health Information guide back in January clarified that the manufacture of stem cells must undergo FDA review.  Yet Celltex continued its operations charging clients tens of thousands of dollars for unproven and unregulated “treatments,” evaded FDA’s clarification, and exposed consumers to additional risks based on its manufacturing deficiencies detailed in the 483 inspection.  More problematically, associated figures such as Gov. Perry and physicians who administer the injections provide the imprimatur of  Celltex’s practices- creatively flouting regulatory requirements, downplaying risks of the procedure, and reaping hefty profits.  Even in the name of therapeutic progress and statewide economic growth, it is time for the FDA to set an example that such disregard for its jurisdiction and review process will not be tolerated. 

--Katherine Drabiak-Syed

Legislatures Race to Define Rights and Obligations Relating to Genetic Information: Avoiding Another Bearder

California is the latest state to take steps toward defining permissible uses and restrictions relating to obtaining, retaining, and sharing individuals’ genetic information.  Senator Alex Padilla recently introduced Senate Bill 1267, the Genetic Information Privacy Act, designed to protect individuals against surreptitious testing of their genetic material without consent.  SB 1267 is a comprehensive piece of legislation which would require a specific authorization to obtain, analyze, or disclose genetic information unless otherwise exempted or allowed by law (exemptions include activities such as newborn screening, duties of the medical examiner, using some types of data for research, and law enforcement uses).  The legislation also contains a civil penalty structure for violations and provides a private right of action for aggrieved individuals who suffer economic, bodily, or emotional harm proximately caused by such violations. 

California’s legislation classifies genetic information within a privacy framework and seeks to increase individual control by requiring the individual to understand the purposes of how the information will be used and stored, as well as which entities have access to the information.  Other states such as Alabama, Massachusetts, South Dakota, and Vermont have introduced similar legislation that govern the collection, retention, and sharing of DNA, genetic information, and or genetic test results.  These states differ in their comprehensiveness and scope- from South Dakota’s paragraph long House Bill 1260 to Alabama’s extensive eleven page House 78.

Unlike California, these states seek to classify DNA, genetic information, and or genetic test results within a property law framework rather than under the umbrella of privacy, which carries distinct legal requirements for transfer, use, and retention.   As legislatures race to define individual rights within existing  legal concepts, they should be well aware of property law’s limitations at upholding individual autonomy while appropriately and efficiently defining permissible research uses depending on how the legislature crafts the language of the statute. 

As we witnessed in the progression of the Bearder v. Minnesota litigation (related to collecting, retaining, and disseminating newborn blood spots) even if a law is seemingly clear, individuals, clinicians, and investigators still may face confusion over relevant terminology and obligations relating to the meaning of key terms and the scope of consent exemptions.  (Blogs and article on that topic here.) Specifically, will these statutes govern the collection, use, and dissemination of genetic information after the analysis of a genetic test using a blood sample or will the language broadly address collecting blood samples, DNA, and genetic test information?  Public health officials, investigators, and individuals have vehemently disagreed over the meaning and scope of these terms and when consent is required.  Individuals have claimed immense injury to privacy and dignity when public health officials and investigators collect, retain, and disseminate their blood samples without consent, while public health officials and investigators decried setbacks to research efforts after they were legally ordered to destroy their improperly obtained blood samples. 

Last November, the Minnesota Supreme Court clarified its state Genetic Privacy Act, holding that an individual’s blood sample contains biological information and biological information falls within the definition of genetic information.   That is, any statutory references to genetic information also applies to blood samples.  It appears that the majority adopted the Plaintiffs' argument  that a blood sample contains DNA and the structure of DNA is genetic information, which means statutory requirements governing the collection, use, storage, and dissemination of genetic information necessarily include blood samples.   

Although this seminal holding is jurisdictionally limited, defining the meaning and scope of biological specimen, blood sample, DNA, and genetic information requires painstaking semantic precision.  Furthermore, the concurrence/dissent in Bearder demonstrates even keen legal minds apply varying logic to interpret terminology and arrive at starkly divergent conclusions.  Defining these terms becomes even more pressing should this or similar state legislation pass because it carries the compliance incentive of a penalty structure for violation.  Legislators should take note of litigation in this area and aim to meticulously and unambiguously define relevant terminology so individuals, public health officials, and investigators can understand their interrelated rights, obligations, and statutory exemptions.  

--Katherine Drabiak-Syed

Privacy and Security Considerations for Emerging Health Information Exchanges: Notes from Utah and New York

Earlier this month the Utah Department of Health issued a press release describing a cyber attack on its server, in which hackers removed information for approximately 780,000 individuals. According the Department of Health, the information contained personal records of individuals within the state, including Medicaid and Children’s Health Insurance Plan recipients.

Permutations of this scenario- whether hacking into a computer server, losing a USB key, or a stolen laptop- are all familiar news headlines announcing a security breach of individuals' health and personal information. Human error and human opportunism make it likely that we will continue to see such information breaches in the future, despite steps to mitigate potential security threats.

As states begin to develop legislation and promulgate rules to govern their electronic health information exchanges (HIE), they should carefully balance residual security and privacy risks with the potential promises of a functional HIE when determining policies relating to how a system enters an individual’s electronic health record (EHR) and what portion of the EHR the state enters into the HIE.

Last month, the New York Civil Liberties Union (NYCLU) issued a report, Protecting Patient Privacy: Strategies for Regulating Electronic Health Records Exchange, which articulated numerous privacy, security, and functional concerns with the state’s emerging HIE. Currently, New York employs a blanket consent procedure for record access and enrolls patients of participating providers into the state's regional health information organizations (RHIOs). 

Among numerous concerns, NYCLU’s Report highlights two distinct issues with this approach:

(1) New York does not provide a mechanism for patients to limit sharing stigmatizing sensitive information such as substance abuse records or mental health treatment if they consent to participate in the exchange; and

(2) Although physicians must obtain consent to view patient information in the exchange, participating providers enter patient medical information into the exchange without patient consent and patients cannot opt-out of the record locator system.

The Office of the National Coordinator for Health Information Technology’s HIT Policy Committee has asserted that a form of granular control over health data can protect the confidentiality of narrow categories of sensitive health information while fostering patient autonomy, promoting trust in medical providers, and building confidence in the growing use of HIT. Although too much data segmentation or exclusion options could confuse patients and undermine the purpose of the HIE as a comprehensive record system, some groups, such as the NYCLU, argue that existing state law requires the capacity for granular control over statutorily identified categories of sensitive medical information. This assertion serves as a reminder that each state contains varied protected categories of sensitive medical information as well as different standards defining additional measures relating to sharing and accessing this information. Earlier this month, the New York Department of Health and the New York eHealth Collaborative established the State Health Information Network of New York Policy Committee to examine these and numerous other concerns over the state’s current policies and procedures governing the exchange.

Patients may also be wary of the security of their identifying records available in the HIE registry system, as a breach could reveal both personal information and the entirety of the patient’s medical records that providers have entered into the HIE. A breach of the HIE would not only invade the patient’s abstract notion of privacy over sensitive information, but could also expose the patient to quantifiable concrete harms such as identity theft, fraud, and the costs associated with investigation and mitigation.

Some victims involved in major medical security breaches have asserted that once information such as social security numbers, patient demographic information, and medical records are accessible in a breach, victims face an imminent and continuing risk arising from the security breach itself regardless of whether an outside party has used the information. Currently, some courts have ruled that even where a third party steals media containing patient information, if the victims cannot prove that a third party actually accessed or used the information, then claims for future financial harm arising from a security breach are insufficient to constitute an actionable injury. To address these legitimate concerns, jurisprudence should evolve with the recognition that potential third party use of this information may be difficult to identify and costly to monitor. Further, months may pass following the initial breach before victims notice fraudulent activity, such as in the substantial TRICARE data breach.

State legislatures should remain cognizant of both patients' desire for privacy and their corresponding wish to limit access to sensitive medical information as well as security concerns from both accidental as well as intentional breaches of patient information during the initiation or expansion of the state's HIE .

-Katherine Drabiak-Syed

Second Lawsuit Against Texas Department of State Health Services Over Alleged Misuse of Newborn Blood Spots

Last week parents in Texas filed a lawsuit against Texas Department of State Health Services (TDSHS) relating to the storage and distribution of their child’s newborn blood spots (NBS). Emerging approximately a year after a settlement over the NBS last December, this news headline looked like déjà vu. The new lawsuit focuses on the gaps of last December’s settlement agreement of the prior case against TDSHS and facts discovered after the settlement.

This separate class action lawsuit led by parent Jeffrey Higgins takes issue with how and for what purposes TDSHS shared the NBS. During the Beleno suit last year, the Beleno plaintiffs repeatedly asked TDSHS with whom they were sharing the NBS and for what purposes. During each of those discussions in the spring of 2009 and before a House Public Health Committee Hearing, TDSHS maintained it shared the NBS for the purpose of public health research but disclosed minimal additional information.

However, a large number of NBS were not used for public health research and this information did not become public until after the settlement. TDSHS numerous NBS to for-profit entities such as Perkin Elmer and bioMerieux in exchange for laboratory supplies. TDSHS only fully shared the extent of how many samples it shared, with what entities it shared the samples, and for what reasons on its website as part of the settlement agreement.

Perhaps most shocking, however, was that TDSHS sent 800 NBS to the Armed Forces Institute of Pathology (AFIP) to build a mitochondrial DNA (mtDNA) registry. AFIP designed this registry as a forensics tool to identify missing persons, solve old crimes, and eventually, share the samples internationally for law enforcement and anti-terrorism efforts. An investigative report that discovered this project surfaced in the media months after the settlement agreement in the Beleno case. [Read our commentary on the mtDNA registry here.]

The Higgins lawsuit focuses on TDSHS’s lack of transparency during the Beleno settlement discussions and alleges that TDSHS intentionally withheld pertinent information that would have substantially altered that case’s discussions and outcome. Similar to the Beleno complaint, Higgins argues that selling or trading the NBS to outside corporations and giving the NBS to the AFIP to build the mtDNA registry rises to Constitutional violations.

1. First, he maintains that taking his child’s NBS and sharing it with outside entities without consent constitutes a violation of his child’s right against seizure of deeply private genetic information.
2. Second, he asserts that sharing his child’s NBS without consent constitutes a violation of privacy.

The Higgins complaint emphasizes TDSHS’s alleged failure to disclose significant facts and communicates the plaintiffs’ concerns about misuse of the hundreds of thousands of NBS that were sent to outside entities. Importantly, the settlement agreement last December 2009 only provided that TDSHS was required to destroy the NBS in its possession. This meant the settlement had no legal effect on what other entities did with the NBS they received from TDSHS.

Accordingly, the complaint asks the court for injunctive relief to stop TDSHS from sharing the NBS with outside entities without consent in the future and for the court to order outside entities that previously received the NBS to destroy the blood samples and any associated data they may have. The first request is significant because it directly challenges the current law in Texas that requires parents to opt-out if they do not want TDSHS to use and share their child’s NBS for research and instead argues that TDSHS must actually obtain consent.

Carrie Williams, spokesperson for TDSHS, maintains that these issues have already been resolved and stated that the Texas Civil Rights Project representing the plaintiffs merely wants “to double dip back into this issue with baseless assertions.”

Despite Williams’ response, mounting evidence does show a startling lack of transparency on the part of TDSHS. Furthermore, if the case goes before the same judge that heard the Beleno case, the result may have a substantial impact. As with other highly unexpected court rulings recently relating to gene patents and embryonic stem cell funding, this case could potentially constitute a monumental turn for whether it is acceptable to collect blood to use and share for research by the opt-out method. In the last Beleno case, Judge Biery in the Western District of Texas denied TDSHS’s motion to dismiss, meaning the court planned to hear the merits of the those Constitutional issues. However, before the parties argued the merits they arrived at a settlement agreement, taking the question out of the courtroom.

The case is still in its infancy, and TDSHS has yet to file a response to Higgins’ complaint. As the case progresses and if Judge Biery eventually hears the merits, we may see another highly surprising court ruling impacting future collection of blood for research purposes.

--Katherine Drabiak-Syed

Timeline of Events

• March 2001- December 2010: TDSHS sends NBS to outside entities for various other projects.

• May 2003: TDSHS sends 200 NBS to the Armed Forces Institute of Pathology to build their mtDNA registry.

• December 2006- December 2007: TDSHS sends a total of 3600 NBS to bioMerieux in exchange for laboratory supplies.

• May 2007: TDSHS sends 600 NBS to the Armed Forces Institute of Pathology to build their mtDNA registry.

• March 2009: Parents led by Andrea Beleno (Beleno plaintiffs) file a complaint against TDSHS.

• March 2009: Beleno plaintiffs question where TDSHS has sent the NBS and for what purposes. TDSHS maintains they use and share the NBS for public health research.

• December 2009: Beleno plaintiffs and TDSHS settle the lawsuit out of court.

• March 2010: An investigative report reveals TDSHS sent a total of 800 NBS to the AFIP’s mtDNA registry. TDSHS spokesperson, Carrie Williams, still asserts that this project falls within the category of “public health research.”

• December 2010: Parents led by Jeffrey Higgins file a complaint against TDSHS.

Read past PredictER News coverage relating to newborn blood spots here:

Oklahoma Legislature Requires Express Consent to Retain Newborn Blood Spots

Transparency of Texas' NBS Transfer and Reassessing Evasive Statutory Interpretation

Newborn Blood Spot Banking in Canada

Minnesota Judge's Dismissal of Newborn Blood Spot Case Misses the Mark

Newborn Blood Spot Litigation Continues in Minnesota and Texas

Critiquing HHS's Summary Recommendations on Newborn Blood Spots: Opt-Out is Not Optimal

Newborn Screening: an Update on Minnesota

Minnesota and Genetic Privacy: Why the Rule of Law is Good for Research

See also:

Jere Odell. Newborn Blood Spots, Biobanks, and the Law: Research Ethics in the News. Indiana Bioethics. February 2010.

Katherine Drabiak-Syed. Newborn blood spot banking: approaches to consent. PredictER Law and Policy Update.Indiana University Center for Bioethics. March 12, 2010.

Mercy Health Plan's Medical Data Security Breach Should Inform OCR's Harm Standard

A recent medical data security breach occurring in Keystone Mercy Health Plan and AmeriHealth Mercy Health Plan in Philadelphia lends support to removing the harm threshold written into the Interim Final Rule of HIPAA and the HITECH Act before promulgating the Final Rule. In August of 2009, the Office of Civil Rights (OCR) published the Interim Final Rule with request for comments on breach notification of protected health information (PHI), which set forth additional definitions and standards to relating to the Privacy Section. OCR is expected to issue the Final Rule by the end of this year or early next year.

When OCR published the Interim Final Rule last year, the media jumped on the inclusion of instructing the covered entity responsible for a breach of PHI to perform a risk assessment as a deciding factor of whether or not to disclose the breach to the individuals and the Department of Health and Human Services (HHS). Eight members of Congress expressed their concern by writing a letter to Kathleen Sebelius, noting that the American Recovery and Reinvestment Act (ARRA) that sets forth the statutory mandates relating to privacy of PHI does not include nor imply a harm standard and urged HHS to repeal or revise the harm threshold standard.

Section 13402 of the ARRA states that health care entities must notify the individual when there is an “unauthorized acquisition, access, use, or disclosure of protected health information which compromises the security or privacy of that information.” In order to decide whether a breach compromises the individual’s security or privacy, the Interim Final Rule set forth a risk assessment criteria and translated a “compromise” of security or privacy to mean a “significant risk of financial, reputational, or other harm” to the individual. Problematically, the covered entity is tasked with assessing the risk of harm to determine whether it meets the threshold for disclosing the breach to the individual and HHS. The Interim Final Rule states that the covered entity should consider to whom the information was disclosed, the type and amount of information, and whether the information contained materials relating to potentially stigmatizing health conditions.

The letter written on behalf of eight Congressional representatives clarified that Congress specifically excluded a threshold for harm when promulgating Section 13402. Furthermore, requiring mandatory disclosure serves as a powerful incentive to health care entities to enact strict privacy and security protections to decrease the likelihood of a breach even occurring.

The Keystone Mercy Health Plan and AmeriHealth Mercy Health Plan (MHP) incident is only the latest in a long line of PHI breaches. In late October, the Philadelphia Inquirer reported that a computer flash drive belonging to Keystone Mercy Health Plan and AmeriHealth Mercy Health Plan (MPH) was lost at a community health fair. The flash drive contained the medical record information of over 280,000 Pennsylvanian Medicaid recipients.

Donna Burtanger, Vice President of Communications at MHP, stated that company representatives were trying to use the health plan members’ PHI to personalize service at community health fairs. Burtanger offered the example of when a health plan member visits a church sponsored health fair, the insurance company representative can access the member’s medical record to schedule an appropriate screening test such as a mammogram.

As one article pointed out, MHP assumes that the patients under the plan would want company employees to have and access the patient’s full medical record or bring that sensitive health information into a less secure location such as a community health fair. This situation highlighted the vast discrepancy between how an insurance company and its members would view the risk-benefit calculation of permitting non-essential access of their sensitive medical information.

If a health insurance company such as MHP does not know when its members would not want their information shared, accessed, or transported, it likely would also face a disconnect when attempting to determine potential harm arising from a breach of its members’ PHI and whether that level of harm would require disclosure of the breach.

OCR should consider whether placing a level of discretion in the hands of health care entities given the knowledge of this difference will build the public’s trust of using electronic health information.

--Katherine Drabiak-Syed

Oklahoma Legislature Requires Express Consent to Retain Newborn Blood Spots

During the past several months, states continue splitting on the issue of how to approach their state health department’s retention and research use of newborn blood spots (NBS).

On September 13, The Edmond Sun ran an article on Oklahoma’s enrolled Senate Bill 1250, a new law that prevents the state health department from storing and using NBS. The text of the law reads:

“A laboratory, medical facility, hospital, or birthing place is prohibited from the unathorized storage, transferring, use, or databasing of DNA from any newborn child without express parental consent.

It being immediately necessary for the preservation of the public peace, health and safety, an emergency is hereby declared to exist…”

Sen. Nichols explained he sponsored the bill as a deliberate pre-emptive measure in response to ethical and privacy concerns related to unauthorized “databasing” and use of NBS in other states. According to Sharon Vaz, the Oklahoma State Department of Health genetics coordinator, Oklahoma only retains the samples for 42 days and does not have plans for long term NBS retention or to use the NBS for research purposes.

Oklahoma’s law demonstrates that different jurisdictions are arriving at starkly divergent interpretations of seemingly simple definitions such as what is or is not encompassed in the meaning of DNA. SB 1250 refers to storing or using DNA, and Sen. Nichols unequivocally explains that he intends this to encompass the retention of NBS- a blood sample. This interpretation is significant because it means the law will use the term DNA to include biological materials from which DNA can be derived.

Unlike Sen. Nichols’ inclusive approach, in late August the Court of Appeals in Minnesota affirmed that NBS do not fall within the definition of “genetic information.” We previously wrote on the Bearder case here. Minnesota has determined that biological samples (such as NBS) that contain DNA and genetic information are not genetic information.

This distinction of separating the source of raw materials (the blood) used for research from the substance of the raw materials (the DNA) is also playing out in the stem cell legal battles- although here, the debate centers around using embryos to create embryonic stem cells v. research using embryonic stem cells. In both arenas, interpreting uncertainty or disagreement of how to apply a law to favor rsearch connects to the decision to splice parts of the process to circumvent barriers to using raw materials.

SB 1250 attempts to rectify several terms that have been disputed when determining the rules for retaining and using biological materials from newborns. Although Sen. Nichols references the law with regard to NBS, the language broadly refers to “DNA from any newborn child,” which would include NBS as well as other biological samples such as umbilical cord blood that contains DNA. This would mean that if an Oklahoma hospital or a partnering research entity wanted to retain and use other biological samples containing DNA from the newborn, the hospital would need to seek parental consent. Furthermore, this law clarifies that the hospital and state health department are not exempt from compliance with the law under a research exception.

Interestingly, the text refers to the law as necessary to preserve the “public peace, health and safety” in Oklahoma. The law is set to be codified in the Oklahoma statute in the same location as crimes consisting of public disturbances, safety hazards, and physical violations against one’s person- examples of tangible harm to indivduals and society at large. This classification itself nods a recognition to the Beleno case in Texas, where plaintiffs’ emphatically argued unauthorized retention of NBS constituted a serious privacy violation and an unlawful seizure of one’s deeply private medical and genetic information.

Whether other state legislatures and health departments agree with Oklahoma’s requirement for express parental consent or the current state of “emergency,” this law reminds us that each jurisdiction should adopt a prospective law or departmental policy to address these questions in a deliberate manner.

--Katherine Drabiak-Syed

California Department of Public Health Orders Changes to Berkeley's Genetic Test Program

Last week Berkeley altered its Bring Your Genes to Cal Program to stop the genetic test results from being disseminated back to participating students in response to an order from the California Department of Public Health (CDPH). Berkeley will still hold discussions and lectures based on the aggregate information as previously planned. [See our posting on the Bring Your Genes to Cal Program here.]

On August 11, Berkeley and CDPH met to discuss the program’s compliance with the California Business and Professions Code which requires that a physician order clinical laboratory tests. In a statement to CDPH, Berkeley asserted its program should fall under an exemption for labs performing tests as research where the results are not reported to patients as part of a medical or health assessment. Berkeley maintained that these statutory requirements were not applicable to its program because Bring Your Genes to Cal constituted an “educational experiment,” students are not “patients,” and the three specific gene variants tested are not disease related.


Despite these claims, the program would have returned genetic test results back to each student, which should be defined as part of a health assessment because the program directed students to use these results to inform their dietary and nutritional choices as well as make personal health decisions. According to Dean Schissel’s message to students in the informed consent video, these genetic test results would then allow them to take measures to improve their health such as eating more or less of a particular food, or avoiding alcohol if their test results showed an ethanol “allergy.” Schlissel’s assertion stretched the meaning of California’s exemption in denying that this “experiment” constitutes clinical laboratory tests or that this information is medically significant. Arguments over statuory construction closely parallel the current federal regulatory loopholes relating to DTC genetic tests.

As genomeweb observed, the semantic debate between Berkeley and CDPH is strikingly similar to the volleys between CDPH and DTC genetic test companies that occurred back in 2008. In June of 2008, CDPH had responded to consumer complaints and sent out thirteen cease and desist letters to DTC genetic testing companies, asserting that their policies did not comply with licensure requirements set forth in California law. Two of the targeted companies, 23andMe and Navigenics, asserted they offer an “informational service” providing personal genetic information and not “medical testing services,” so they did not need to obtain a license. CDPH agreed and granted licenses to Navigenics and 23andMe in August 2008.

Now, with Congress and the FDA scrutinizing the federal regulatory requirements, CDPH seems to be responding to the current political shift of opinion and the uncertainties related to providing genetic test results without a physician intermediary and oversight of the test's accuracy and validity. Or perhaps CDPH agreed with concerns in the defeated California Assembly Bill 70. This bill would have urged state schools within the California State University and University of California system from requesting students’ DNA for the purpose of genetic testing.

Defeated AB 70 also raised specific privacy concerns stemming from a university collecting students’ DNA samples for genetic testing and retaining students’ coded genetic information. Although Berkeley's program will incinerate students’ DNA samples following testing, it plans to keep students’ genetic information for further study. Data attack in GWAS studies exemplifies the principle that our understanding of data security relating to genetic information is uncertain, and we have continually underestimated the potential for security breaches. Dean Schlissel’s unwavering promises of absolute privacy seems naively optimistic given what we know in this area.

It seems this “teaching study” has given Berkeley and its freshmen more than they could have anticipated. In addition to the campus lectures about genetics and personalized medicine, students have already learned the ethical and legal complexities associated with emerging technology- the varied parties who have a say, the definition debates, and the unpredictability of the resolution.

--Katherine Drabiak-Syed

DTC Tests Face Scrutiny at FDA, by GAO, and Congress

Last week produced a flurry of activity at the FDA and before Congress relating to regulation of field of DTC genetic tests. Here is a summary:

At the FDA:

The FDA sent out additional letters to fourteen more DTC companies, stating that the companies’ respective tests constitute in vitro diagnostic devices subject to FDA regulation. These letters mirror the original letters sent out in June to 23andMe, Navigenics, deCODE Genetics, Knome and Illumina, which we discussed here and here.

On July 19-20, the FDA convened its Public Meeting on the Oversight of Laboratory Developed Tests to discuss the history and current regulatory status of LDTs and status of DTC genetic tests. The meeting was divided into four sessions to address:

• patient and clinical considerations;
• clinical laboratory challenges;
• concerns, benefits, and risks of DTC testing; and
• education and outreach so laboratories can comply with regulations and physicians are enabled use the genetic information provided in these tests

GAO Report:

On July 22, the Government Accountability Office released its report Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices and offered it as testimony during the hearing before the Subcommittee on Oversight and Investigations, Committee on Energy and Commerce in the House of Representatives.

The GAO posed as consumers and sent DNA samples from five people to four selected companies. It also examined a sample if fifteen companies’ advertising and marketing practices.
This report revealed numerous appalling flaws related to selected DTC test’s accuracy, company follow up with consumers, and consumer privacy protections. The report found the following five problems:

(1) each donor’s factual profile received disease risk predictions that varied across all four companies, indicating that identical DNA can yield contradictory results depending solely on the company it was sent to for analysis;

(2) these risk predictions often conflicted with the donors’ factual illnesses and family medical histories;

(3) none of the companies could provide the donors who submitted fictitious African American and Asian profiles with complete test results for their ethnicity but did not explicitly disclose this limitation prior to purchase;

(4) one company provided donors with reports that showed conflicting predictions for the same DNA and profile, but did not explain how to interpret these different results; and

(5) follow-up consultations offered by three of the companies provided only general information and not the expert advice the companies promised to provide.

Varied risk prediction from each company grossly undermines each company’s claim of superiority and accuracy, weakening the reliability of the test results. For example, a male “consumer,” age 48, received three different results about his risk for hypertension. One company claimed he had a below average risk of developing hypertension, a second company stated his risk was average, and a third company noted his risk was above average. Accordingly, if a real consumer would integrate this information to make lifestyles changes as advocate by one of the companies, he may be incentivized toward undesirable health behaviors based on a mistaken belief of lower risk.

A widely circulated YouTube video documented some companies’ dangerous blurring of risk and diagnosis during follow up with company representatives. Here is one example:

Fictitious consumer: “So if I’m high risk, does that mean I’ll definitely get breast cancer?”

Company representative: “You…you’d be in the high risk of, you know, pretty much getting it.”

The GAO classified this exchange as “horrifying” and “disconcerting.” It leads me to wonder how many real consumers received similar devastating and incorrect information when they attempted to follow up their own test results? How many went to their physicians with these results and remained unconvinced when the physicians attempted to reassure them? In the near future, these companies should brace themselves for the legal backlash that is sure to follow from consumers who experienced such troubling exchanges and may vent their anxiety and frustration in the form of legal complaints alleging negligence and emotional damages.

Before Congress

During the hearing on the Hill, Rep. Griffith echoed this cautious sentiment, suggesting when confronted with alarming genetic risk information, consumers are likely to panic first and ask questions later. The Genomics Law Report provides a summary of the hearing here.

Despite GAO’s conclusion that DTC companies provide results that are “ambiguous and misleading,” Rep. Burgess and Rep. Waxman voiced their disfavor of overly intrusive regulation and advocated for a system that would still allow consumers to access their personal genetic information.

However, the GAO report illustrates precisely why the model for these tests will continue to encounter problems without the guidance of a physician as gatekeeper and interpreter. In another exchange recorded on the YouTube video, a company representative tells one “consumer” he can eventually stop taking his prescription medicine for high cholesterol if he purchases and uses the company’s pricey vitamin supplements. Advice connecting risk to behavior and medication changes should require a visit to a healthcare provider, not a phone call to a faceless company representative with uncertain credentials.

Even if a company’s test is accurate and it ceases to disseminate misleading advice about the power of its supplements, consumers still want (and need) additional information and advice from healthcare professionals to interpret and act on the test results they receive.

-Katherine Drabiak-Syed

Berkeley Scheduled to Move Forward with Freshmen DNA Testing

Yesterday, Berkeley’s student newspaper The Daily Californian published on op-ed questioning Berkeley’s decision to move forward with its experiment designed collect DNA from consenting incoming freshman. The “Bring Your Genes to Cal” experiment originally made headlines over a month ago, when the New York Times and other major newspapers described the program and the corresponding polarized responses. In a few weeks, Berkeley is scheduled to send out information packets, informed consent forms, and buccal swab kits to the incoming freshman class to test for genetic variation related to their ability to process lactose, metabolize alcohol, and examine their levels of folic acid.

Mark Schlissel, MD, PhD, Professor of Immunology and Dean of Biological Sciences at Berkeley views the program as a lesson of how genetics and personalized medicine will impact students’ lives in the future. “We wanted to give students a sense of what’s coming, through genes that can provide them with useful information. I think it’s one of the best things we’ve done in years,” said Schlissel to the New York Times. Schlissel described how the campus will hold seminars and forums in the fall to discuss the significance of personal genetic information.

Despite Schlissel’s enthusiasm, the program is not without criticism. Jesse Reynolds, a policy analyst at the Center for Genetics and Society, acknowledged that educating incoming students on new genetic technologies can indeed constitute an important teachable experience, but raised several cautionary notes. First, Reynolds questioned whether students will freely consent to the test or whether they will feel subtle social pressure to submit a DNA sample. Second, and importantly, Reynolds asserted that by suggesting freshmen’s participation in this experiment, Berkeley is legitimizing or promoting the direct-to-consumer genetic testing industry.

As recent Berkeley alumnae Jillian Theil pointed out in her op-ed on Monday, the scientific validity of these tests when they are offered by direct-to-consumer (DTC) companies is still unknown. Earlier this month, the FDA stepped forward to assert that tests offered by companies such as 23andme and Navigenics are in fact invitro devices and fall under FDA review. But until the FDA and the companies offering DTC genetic tests work through the regulatory process, the current DTC genetic tests’ analytical and clinical validity remains uncertain.

Problematically, students will not fully learn about the complexities of federal regulation, genetic information, and how to contextually interpret it until after they receive their results during the fall discussion sessions on campus. Contrary to Schlissel’s categorization of these variants as innocuous information, bioethicist George Annas argued that a college student’s genetic variant relating to alcohol metabolism is far from harmless. “What if someone tests negative, and they don’t have the marker, so they think that means they can drink more? Like all genetic information, it’s potentially harmful,” asserted Annas in the New York Times.

Theil’s title hit the mark: proceed with caution, indeed. Students should know that similar tests offered in the marketplace are in the middle of potentially sweeping regulatory changes. Even if Berkeley’s tests are accurate, as Annas noted, students should interpret their genetic information carefully (should they choose to participate) and forgo basing any lifestyle decisions on their results.

--Katherine Drabiak-Syed

Pathway Genomics: the Final Tipping Point for FDA Regulation of DTC Genetic Tests?

On Monday, the New York Times reported that Pathway Genomics, a company selling direct-to-consumer (DTC) genetic and ancestry tests partnered with Walgreens, who was poised to begin stocking its shelves across the nation with kits. Two days later, the FDA sent a letter to Pathway Genomics asking the company to either show it has regulatory approval or explain why the test does not fall under the purview of FDA’s regulations. As a result of this controversy, Walgreens announced it will postpone selling the kit until the company resolves the issue with the FDA.


Pathway Genomics, like other DTC genetic tests, offers DNA testing to provide consumers information relating to genetic markers for risk of developing health conditions, carrier status, drug responses, and adverse medication reactions. Its website promises “with Personal DNA Testing, you can take preventative steps to improve your future, and even extend your life.” Despite these assertions, Pathway Genomics maintains its test should not fall under FDA regulation because it is “not intended for use in diagnosis, treatment or for the mitigation or cure of a disease.” This fine (or nonexistent) line of what constitutes a medical test rather than an informational service was the same argument used by Navigenics and 23andme back in 2008 when they responded to cease and desist letters sent by the California Department of Public Health.



Up until this point, the FDA has declined to regulate tests and active ingredients that a company creates itself in its own laboratory (home brew tests.) [See our previous posting on the topic here and our Direct-to-Consumer Law & Policy Update here.] Accordingly, the FDA has not regulated home brews’ claims of clinical validity, analytic validity, or clinical utility. That is, consumers had no assurance whether the test correctly correlated with the presence, absence, or increased risk of a certain disease; whether the test’s positive or negative test result correlated with the gene sequence; or whether the company provided useful information to translate these results to the consumer.


The Genomics Law Report posits that the sudden change in FDA’s response reflects the fact that Pathway Genomics will be the first company to sell its kit in a store location rather than through the internet, which increases its visibility and availability to consumers.


It also magnifies the potential that consumers may misunderstand or be misled by test results. Even if the test itself provides accurate information, the nature of DTC genetic tests presents inherent shortcomings. First, there is no requirement for a physician to determine whether the test is medically indicated prior to ordering. Second, there is no mandatory genetic counseling to explain the significance and limitations of the results.


Like several other companies, Pathway Genomics charges additional fees for a consumer to purchase telephone sessions with a genetic counselor. Unlike other companies, Pathway Genomics states it will provide a free genetic counseling session if the company deems it “medically necessary.” This gracious offer misses the point that genetic counselors should always be part of the genetic testing equation. It also leaves us to wonder, how does Pathway Genomics decide what constitutes a medically necessary reason?


It seems Pathway Genomics’ business decision to partner with the drugstore giant may have finally caught the FDA’s attention. FDA’s investigation into Pathway Genomics’ test into may turn out to be the long awaited tipping point for FDA to revise its stance and begin to regulate DTC genetic tests.

-Katherine Drabiak-Syed

Havasupai Tribe and Arizona State University Settlement Agreement: ASU to Return the Blood Samples

On April 21, 2010 the New York Times reported that the Havasupai tribe and Arizona State University (ASU) arrived at a settlement agreement relating to litigation over ASU’s alleged misuse of the Havasupai tribe’s blood samples originally collected for diabetes research. (Visit our forthcoming Human Specimen Collection, Biobanking, and Genetic Research Law and Policy Update for more information on the case.)

After millions of dollars spent on litigation in various suits, the tribe and ASU entered into the settlement agreement in March of this year. The settlement contains several provisions including details for ASU’s performance obligations such as:

(1) ASU will pay the plaintiffs a sum of $700,000;

(2) ASU will return all blood samples in its possession; and

(3) ASU will return documents such as lab books and genealogy materials containing research derived from the blood samples, it will direct IRBs at the universities involved in the suit not to approve ongoing or new research using the samples, and it will provide the tribe a list of entities to which it previously transferred the samples.

The settlement agreement also set forth a creative five year collaborative between ASU and the tribe designed to address the tribe’s needs in the areas of education, health and nutrition, economic development, architecture, engineering, and legal governance. Several of these provisions include pursuing funding opportunities to build a high school near the reservation, partnering ASU nursing students to provide clinical care in Supai village, and working with the tribe to develop business plans related to its tourism programs.

Like many other settlements, this agreement specified a monetary exchange. ASU's transfer of $700,000 (split among the forty-one plaintiffs) seems nominal compared to plaintiffs’ request for $25 million in compensatory damages and $25 million in punitive damages. However, unlike other agreements, the money was arguably not the central concern here and would never alone be sufficient to remedy plaintiffs’ alleged damages without addressing the use and possession of the blood samples.

The return of the samples and research materials highlights several important issues that suggest our current standards and assumptions governing biobanking research are inadequate to address the needs of all research subjects, especially if blood and DNA is particularly significant to a group's cultural values and sense of identity.

First, subjects must be fully informed when they provide consent to use their blood for genetic research and the scope of the research should not exceed the original consent. Second, using the blood for purposes beyond the scope of the original consent may present serious dignitary concerns that researchers may overlook because the substance of these concerns may not even register as a possible harm or risk. Indeed, one of the ASU researchers maintained she was advancing important research and refered to the tribe's claims as "hysterical." Lastly, the importance of how the samples are (mis)used can be so vital to a particular group that return of the samples may be the only mechanism to fully remedy the group’s alleged dignitary harms.

-Katherine Drabiak-Syed

Judge Grants Partial Summary Judgment to Plaintiffs: Myriad's Gene Patents Are Invalid

On March 29, Judge Sweet issued a ruling in Association for Molecular Pathology v. United States Patent and Trademark Office. Known as the lawsuit against Myriad Genetics, this case was posed to answer the widely debated question of whether human genes are patentable. In a 152 page opinion, the Court comprehensively addressed whether the defendants’ patents were valid under the standards set forth in 35 USC § 101 and patent law’s subsequent precedent.

For more information on the case, see our previous posting and our Law & Policy Update.

Judge Sweet granted partial summary judgment in favor of the plaintiffs related to both the composition and the method claims, finding as a matter of law defendants’ patents were invalid under 35 USC § 101. (For more on the significance of summary judgment, see Genomic Law Report’s posting.) The Court dismissed the Constitutional claims against the USPTO based on the doctrine of Constitutional Avoidance. This means where it is possible to resolve plaintiffs claims without addressing the Constitutional questions, the Court is precluded from addressing these issues.

Defendants argued that by isolating and purifying DNA, they had sufficiently changed a product of nature into a fundamentally new product that satisfied subject matter patentability requirements. Judge Sweet responded to defendants’ arguments by systematically refuting each point. The Court thoroughly dismantled defendants’ reliance on precedent relating to products of nature in Parke-Davis, explaining that this case’s analysis only related to outdated dicta. Purification of a product of nature without additional handiwork or change to the substance is insufficient to meet the requirements for patentability because isolated DNA is not markedly different from native DNA, according to the Court. By definition, isolated DNA can be used for research tool applications where native DNA is unsuitable because it has an identical sequence.

Notably, Judge Sweet also took issue with defendants’ arguments that USPTO and the Court should treat patents for DNA identically to every other chemical. Unlike other chemicals, genes have a double nature because they are both chemical molecules and physical carriers of information. “DNA, and in particular, the ordering of the nucleotides, therefore serves as the physical embodiment of the laws of nature- those that define the construction of the human body,” wrote Judge Sweet. (124) These distinctions suggest that the Court recognizes the problematic implications of continuing to treat DNA as any other chemical- a frenetic race to patent the rest of the human genome without consideration of research or clinical care consequences.

The Court also invalidated defendants’ claims for analyzing and comparing sequences of the BRCA genes, finding that the claims did not meet the required physically transformative step. Preparatory processes such as isolating and sequencing the DNA only constitutes data gathering and are insufficient to transform an abstract mental process of comparing gene sequences into a transformative process. In addition, the Court invalidated defendants’ claim for comparing the growth rate of cells. In that patent, defendants claim stated that a slower growth of cells indicated a cancer therapeutic. Judge Sweet clarified that the essence of this claim merely recited the scientific method and constituted a patent on a basic scientific principle.

This opinion signals an important pause in frantic pursuit of more and more gene patents. Judge Sweet’s analysis commands us to rethink whether precedent ever actually supported patent eligibility for isolated DNA sequences or sequence comparison claims like Myriad’s.

The impact of this decision alone means that some of Myriad’s patents are invalid and it cannot enforce them in the future. However, defendants will likely appeal this decision to the Federal Circuit, which may choose to stay Judge Sweet’s ruling until it renders a final decision. If the final ruling happens to affirm this Court’s findings, then the USPTO would conform its examination policies to avoid issuing patents on isolated DNA or the comparison or analysis of DNA sequences.

-Katherine Drabiak-Syed

Transparency of Texas’ NBS Transfer and Reassessing Evasive Statutory Interpretation

A recent investigative report from the Texas Tribune revealed new information relating to the sharing of newborn blood spots (NBS) in Texas.

In November 2009, Texas Tribune reporters contacted the Texas Department of State Health Services (TDSHS) with a record request to review agency information and activities related to the NBS as permitted under the state’s Sunshine laws. TDSHS refused, maintaining that the NBS records were confidential. After parties filed the settlement with the court, Texas Tribune inquired again to obtain the records and found that TDSHS transferred hundreds of de-identified NBS to the Armed Forces Institute of Pathology to build a mitochondrial DNA (mtDNA) registry.

The Armed Forces Institute of Pathology designed the mtDNA registry as a forensics tool to identify missing persons, solve old crimes, and eventually, share the samples internationally for law enforcement and anti-terrorism efforts. Throughout the plaintiffs’ allegations and questions, TDSHS asserted it was storing and using the NBS for medical research, never mentioning any forensic use even through plaintiffs’ attorney James Harrington specifically inquired how TDSHS used the samples. TDSHS’ provision of information relating to the mtDNA registry would have been both directly pertinent and material to answering plaintiffs’ questions about the NBS disposition and how plaintiffs chose to proceed with the lawsuit.

In addition to the information on the mtDNA registry, the records request also uncovered email communications from the time when TDSHS began storing NBS at Texas A & M University. When the storage began, Texas A & M asked to issue a press release, but a TDSHS official stated that releasing this information made him “nervous” and would “only generate negative publicity.”

Although the decision revealed in the emails prevented public knowledge of storage for research use, it demonstrates a problematic mentality that transparency poses an unnecessary burden. Remaining in the dark about research using NBS is one issue, but failing to disclose (even when asked on several occasions) that the NBS are included in a registry for forensic and future law enforcement purposes creates a multitude of distinct issues. Both explicit knowledge and consent should be required to include one’s DNA in such a database.

Following terms of the settlement agreement, TDSHS’s website lists projects for which TDSHS uses the NBS. The mtDNA registry is now included on this list of projects, and TDSHS spokesperson Carrie Williams maintains that it falls within the category of “public health research.”

Sweeping forensic and law enforcement uses into the definition of public health research warrants close analysis. First, a plain reading of each definition would clearly show that the purpose of research into the causes of autism is not remotely connected to using DNA to identity a suspected criminal. Applying such a definition extends the limits of creative statutory interpretation too far. Second, states’ legislatures have attempted to impose limits on the use of NBS and other biological samples by creating exemptions or abbreviated pathways when the samples are used for public health research. Including forensic and law enforcement purposes ignores this precision and opens the possibility that samples would be shared for even more uses that would not disclosed to the public because the state health department could use this precedent to assume this use also would constitute “public health research.”

The potential for negative publicity alone should not serve as a barrier to transparency, but rather encourage public education for why TDSHS thought giving NBS to the mtDNA registry (with proper consent) would be beneficial. Dodging specific inquiries related to the uses of NBS, failing to disclose that they were given to this registry, and subsequently classifying the registry as a public health project have created even more of a publicity nightmare than TDSHS could have imagined. Other state health departments may be wise to assess whether their own policies encourage transparency, public engagement, and a sincere interpretation of what projects constitute public health research.


--Katherine Drabiak-Syed

Direct-to-Consumer Fetal Sex Prediction Tests: the US is Not Immune to Sex Selection

In January, Dutch researchers published a study relating to a new method for screening maternal blood to determine fetal sex as early as seven weeks after conception. Although this test reports 100% accuracy, other direct-to-consumer (DTC) fetal sex prediction tests that advertise online offer similar tests with unregulated accuracy.


Recently, these tests have come under increased scrutiny based on the possibility that consumers both in the US and abroad may purchase the tests as a means obtaining information about fetal sex as the first step in seeking a sex selection abortion. Unlike an ultrasound (performed at 18-20 weeks in the second trimester), these DTC tests advertise the ability to predict fetal sex between 5-10 weeks in the first trimester. This offers parents an opportunity to determine fetal sex and make corresponding planning decisions to produce a child of a specific sex that may have been previously unaffordable (through means such as preimplantation genetic diagnosis or sperm selection) or inaccessible (second trimester sex selection abortions).


Three main countries- China, India, and Korea- are often used as examples of countries with socio-cultural environments that contribute to male child bias in attitude and action. Literature contains extensive discussion on how and why socio-cultural attitudes have traditionally, and still to a large extent, continue to favor male children and perpetuate extensive gender discrimination within the respective countries. The magnitude of bias is reflected in the skewed population ratios such as the 50 million “missing” females that should otherwise exist in the Chinese population. These deeply entrenched reasons for male bias and the pervasiveness of these attitudes means that even despite legal steps to explicitly limit or prohibit sex selection abortions, for decades both parents and practitioners have ignored laws designed to prevent this practice in each respective country.


In recognition of this issue, some DTC fetal sex prediction companies specify that they do not sell the product to consumers in China and or India. However, some companies have not issued such restrictions, and consumers in India or China can locate these products by a simple internet search. In India, scholar and activist Dr. Sabu George filed a lawsuit against Google and Yahoo seeking to enforce an Indian law against advertising products that reveal fetal sex. While the search engines have pulled some advertisements, internet searches still provide links to the DTC fetal sex prediction company websites.


The potential of using fetal sex prediction tests as a means of sex selection is not only a problematic issue limited to other countries. Both attitudinal research and recent litigation suggests that some parents in the US may use these tests for sex selection purposes.


Despite a notion that the general US population does not possess a preference for a child of a specific sex, statistics suggest this assumption may not be correct. Numerous studies demonstrate that members of the US population do possess attitudinal bias favoring male children, either as only children or first born. Some parents not only hold this male child bias, but are also willing to translate these attitudes into practice to achieve the desired outcome.


Another lawsuit against the Baby Gender Mentor product, Duffy et al. v. Acu-Gen Biolabs et al., also confirms these attitudes exist within the US population. Plaintiffs allege the tests were inaccurate and falsely predicted their baby’s sex, which caused them emotional distress and had a “devastating effect.” One plaintiff asserts that the incorrect test results contributed to the demise of her marriage because her husband wanted a boy, while another plaintiff upon learning the results “struggled, needlessly, with whether to keep [the pregnancy.]”


Granted, vast socio-cultural differences exist between counties such as India, China, and the US that could lead to less devastating population wide outcomes. However, does this mean we should be less concerned that only a small percentage of the population may use these tests for sex selection purposes? What can we learn from these countries when formulating our policy relating to how these tests can or cannot be used?

--Katherine Drabiak-Syed

Minnesota Judge’s Dismissal of Newborn Blood Spot Case Misses the Mark

On November 24, 2009, Judge Marilyn Rosenbaum signed an order dismissing plaintiffs’ complaint with prejudice in the Bearder et al. v. Minnesota et al. (MDH) lawsuit. This dismissal quickly disposed of plaintiffs’ claims that MDH’s practices of retention and research use of newborn blood spots (NBS) conflicted with specific protections outlined in the Minnesota Genetic Privacy Act (GPA) and constituted violations of their childrens’ property and privacy interests.

Judge Rosenbaum responded to plaintiffs’ claim that MDH failed to comply with the GPA by ruling that the GPA does not even apply to MDH’s actions because:

• NBS samples do not constitute genetic information; and
• The statute contains reference that it will not apply if an express provision in the law exists.

The GPA clearly defines genetic information as:

• “Information about an identifiable individual derived from the presence, absence, alternation, or mutation of a gene… which has been obtained from an analysis of the individual’s biological information or specimen” and
• “Medical and biological information about a particular genetic condition that is or might be used to provide medical care to that individual.”

Judge Rosenbaum’s finding that NBS are not classified as genetic information ignores the plain language of the statute. NBS are collected to analyze the presence, absence, or mutation of a disease during the newborn screening process and used to obtain medical and biological information about a particular genetic condition so parents of newborns can make medical decisions accordingly. Thus, logic compels classifying NBS as genetic information.

Defendants argued that the newborn screening statute which states that the NBS and results of the screening tests “may be retained by the [MDH]” amounts to an express provision authorizing exemption from the GPA. Judge Rosenbaum’s agreement disregards the meaning of “express provision” and the substantive fact that the collection and temporary retention for screening purposes is distinct from the collection, retention, and use for additional research reasons. Accounting for this important division, the statute would have explicitly and distinctly contained a section authorizing additional retention and research use beyond the collection and retention for detection, treatment, and follow up of heritable and congenital disorders if the legislature intended.

Additionally, this interpretation ignores the purpose of the GPA as a means to limit collection of genetic information by a government entity.

The finding that this section of the newborn screening statute (“may be retained by the [MDH]”) constitutes an express provision allowing retention and research beyond the initial screening poses two additional dilemmas. First, it problematically ratifies blurring screening with additional retention and research. Second, Judge Rosenbaum’s finding ignores that the retention and research is not limited to the MDH but extends to its research partners such as the University of Minnesota, the Mayo Clinic, and the CDC.

Randall Knutson, attorney for the plaintiffs, responded:

“It is our hope to bring some legal guidance and common sense to DNA issues, including the storage and dissemination of genetic information by our government agencies. As it now stands, the State of Minnesota appears free to use and sell our genetic information, without us having any say in the matter. That is simply unacceptable, and we intend to continue to fight on to change this situation.”

Knutson plans to appeal Judge Rosenbaum’s decision.

--Katherine Drabiak-Syed

Lawsuit Challenging Myriad’s BRCA1 and BRCA2 Patents Will Go Forward: Judge Rejects Defendants’ Attempts to Preclude Plaintiffs’ Day in Court

Association for Molecular Pathology v. United States Patent and Trademark Office, Civil Action No. 09-4515 RWS ((S.D.N.Y. 2009) known as the lawsuit against Myriad Genetics challenging its gene patents related to BRCA1 and BRCA2 will go forward.

On November 1, 2009 Judge Robert Sweet handed down an order denying the defendants’ motion to dismiss. In the 85 page order, Judge Sweet accepted many of plaintiffs’ arguments set forth in the complaint and accompanying affidavits, finding that the court may properly hear the case and plaintiffs may properly sue each defendant.

The court flatly rejected defendants’ assertion that plaintiffs could not use the court as an arena to challenge questions of patentability.

Judge Sweet declined to adopt defendants’ arguments that the existence of the Patent Act as a comprehensive statutory scheme demonstrates Congressional intent to provide an internal remedy and preclude judicial challenges of the nature in this suit. The court noted that despite the USPTO’s statutory scheme to address patent questions, it does not provide a comparable statutory framework to raise Constitutional concerns and provide remedy accordingly; thus, plaintiffs may still bring an action to enforce the asserted Constitutional rights.

The court’s arrival at this reasoning is closely connected to Judge Sweet’s lengthy description of why the plaintiffs’ allegations of Constitutional violations are adequate and why the Court will not grant defendants’ motions to dismiss. The order described plaintiffs’ assertions that Myriad’s patents in question grant Myriad ownership rights over products of nature, laws of nature, natural phenomena, abstract ideas, basic human knowledge, and thought, which would violate the First Amendment. Additionally, plaintiffs pled that Myriad’s ownership of the patents in question inhibited further research, which would violate of Article I, section 8, clause 8 of the Constitution that directs Congress (and by delegation, the USPTO) to promote the progress of science.

The court also rejected Myriad’s arguments that plaintiffs could not show Myriad acted affirmatively to enforce the patents or that plaintiffs undertook meaningful preparation to potentially infringe the patents.

Judge Sweet adopted facts set forth in plaintiffs’ complaint and affidavits describing how Myriad sent out cease and desist letters to researcher plaintiffs and initiated two actions against infringers, demonstrating Myriad’s affirmative actions and willingness to enforce the patents. Importantly, the court further noted that given the widespread knowledge of the breadth of Myriad’s claims and its willingness to enforce its patents, a court would likely find that infringement of the patents would be considered willful and result in treble damages- meaning a scientist attempting BRCA research could be subject to extraordinary damages above merely compensating Myriad for any monetary losses.

Additionally, Judge Sweet accepted the researcher plaintiffs’ assertions that they are ready, willing, and able to infringe the patent because they are prepared to advance BRCA research, and or offer testing, and could do so within a matter of weeks. The court also noted that the plaintiff women affected by breast or ovarian cancer could take advantage of testing alternatives to find another test covered by their insurance or obtain a second opinion (options currently denied to them because of Myriad’s patents) that would potentially classify them as contributory infringers, meaning they could also properly sue the defendants.

The case moves forward and the court will hear parties’ oral arguments on motions for summary judgment on January 21, 2010. At this hearing, the court will decide whether there are genuine issues of material fact in dispute that would preclude the court from ruling as a matter of law for one party. If Judge Sweet’s order is any indication, a multitude of problems exist that are ripe for a hearing, and in the near future this court could squarely address these contentious issues arising from gene sequence patents. Perhaps finally the judicial system could address both the USPTO's and Congress' failure to re-examine patentability standards for gene sequences and decide whether issuing gene patents run contrary to Constitutional and statutory requirements.

-Katherine Drabiak-Syed