In 2005, news headlines excitedly shared the latest development in direct-to-consumer testing: the Baby Gender Mentor early prenatal gender detection test. Acu-Gen Biolab, Inc., a company based in Lowell, Massachusetts, claimed that as early as five weeks, pregnant women could use a simple finger-prick test to obtain a blood sample and send it to Acu-Gen who would use “established qPCR technology analysis” to determine their baby’s sex. Originally claiming their $275 test was “infallible” and 99.9% accurate with a 200% money back guarantee, many expectant women relying on Acu-Gen’s claims eagerly purchased the test.
Months later, numerous accusations surfaced relating to the accuracy of the test, Acu-Gen’s failure to honor the warranty policy, and more disturbingly, allegations that C.N. Wang, PhD, President of Acu-Gen, advised several women that the results of their gender detection test conflicted with their ultrasound results because their baby had chromosomal abnormalities or a fetal “defect.” As a result of this alleged medical advice, many women sought further testing and procedures to determine whether their baby did indeed have a chromosomal abnormality. In addition to enduring the tremendous anxiety caused by Wang’s statements, these women underwent additional procedures such as extra ultrasounds, amniocentesis, and chromosomal testing, accumulating costly and unnecessary expenses.
Why is this seemingly dated piece of news still an issue? Because it has yet to be resolved. Although thepregnancystore.com, a prior vendor of the test no longer carries the product, The Baby Gender Mentor website still sells the potentially dangerously misleading early prenatal gender detection test.
In early 2006, New Jersey law firm Gainey & McKenna filed a class action law suit, Blumer, et. al. v. Acu-Gen Biolabs, Inc., et. al. on behalf of over 100 women who purchased the Baby Gender Mentor test, claiming among other things, that Wang and Acu-Gen’s deceptive advertising, misrepresentation of the test’s accuracy, and illusory guarantee induced them to purchase an inaccurate test and caused them corresponding harm, amounting to eight counts of legal violations.
In the complaint, Blumer et. al. requested:
(1) profit disgorgement and restitution, which would recognize Acu-Gen’s unfair business practices and require them to pay Blumer and the women back, thus honoring their money back guarantee;
(2) compensatory damages, to compensate women for any other undue expenses such as the hundreds or thousands of dollars spent on additional medical testing to clarify whether their baby suffered from a chromosomal abnormality;
(3) punitive damages, to penalize the defendant’s wrongdoing and serve as a deterrent to similar companies; and
(4) injunctive relief to prevent Acu-Gen and Wang from further marketing, selling, and profiting from the test.
Acu-Gen maintains their product works, and Wang has referred to the allegations as “totally bogus.”
Although Gainey & McKenna negotiated on behalf of Blumer and arrived at a settlement agreement with Acu-Gen and Wang, according to Barry Gainey, lead counsel for the plaintiffs, both defendants reneged on their settlement agreement. The District Court of Massachusetts denied Blumer’s motion to enforce the settlement, leaving these women and all other similarly situated individuals at square one- susceptible to cutting edge and supposedly infallible technological advancements that leave them aggrieved without effective or timely recourse.
Barry Gainey confirmed that the case is still active and plaintiffs filed a motion to amend the complaint. To clarify this timetable: over three years have passed since filing serious accusations of legal violations, yet there has still not been a hearing on the case’s merits or enforceable settlement. This progression illustrates the inefficiency of the judicial system to address gaps in federal regulation and the potentially grave impact of direct-to-consumer tests.
Like many other direct-to -consumer tests available online, gender prediction tests have been treated as outside the scope of federal regulation. Despite the FDA’s mandate to regulate medical devices used in the diagnosis of disease or other conditions (such as pregnancy), the FDA has thus far declined to regulate the “home-brew” variety to direct-to-consumer tests where a laboratory such as Acu-Gen uses its own reagents and protocols. Thus, the FDA does not regulate the clinical or analytical validity of these tests. The FTC has similarly followed suit in declining to regulate the industry, despite its authority to prohibit false or misleading advertising.
Private remedy through the judicial system is ineffective in addressing the regulatory shortcomings in direct-to-consumer tests. Over three years later, and the women wronged by the Baby Gender Mentor test have yet to receive their day in court. Meanwhile, Acu-Gen continues to market, sell, and profit from a test that at best, is of uncertain validity, and more troubling, may reflect the allegations in the Blumer complaint. How many more aggrieved individuals and how many more years must the public wait until the FDA and the FTC step in?
-Katherine Drabiak-Syed
Tuesday, July 21, 2009
Wednesday, July 1, 2009
Will Stronger Privacy Protections Result in Better Health Data? The Health Privacy Project Recommendations
The Health Privacy Project of the Center for Democracy & Technology (CDT) recently released a paper arguing for changes in how the HIPAA Privacy Rule protects "de-identified" health information. The recommendations grow from a one-day, CDT workshop held in September 2008. The Health Privacy Project makes the following eight recommendations:
1. Re-examine the Privacy Rule de-identification provisions (in particular, the safe harbor method for de-identification);
2. Strengthen accountability by requiring data use agreements;
3. Expand data anonymization options under the Privacy Rule;
4. Provide incentives to use less than fully identifiable data for certain purposes;
5. Provide support through “Centers of Excellence” in de-identification;
6. Require or encourage the use of limited access datasets and other technical solutions;
7. Require education and training of staff de-identifying data; and
8. Consider increasing public transparency regarding uses of de-identified data.
The Project argues that the HHS needs to re-examine the Privacy Rule "to ensure that the de-identification standard remains robust as re-identification becomes easier."
For readers struggling with the "Babel" of data privacy vocabulary (for example, what's the difference between "anonymous" and "anonymized"?), these recommendations may open the door to additional confusion, especially if #3 (above) means that additional categories of protected data are created. The Privacy Rule currently offers two categories data which are exempt from regulation: "de-identified" (presumed to be beyond the risk of re-identification and therefore not regulated) and not fully identifiable, "limited data sets" (incomplete data which includes some identifiers, for example: birth dates). While the Rule's current categories may seem simple, The Health Privacy Project notes that a "one-size-fits-all de-identification approach" does not, one the one hand, meet the diverse data needs of researchers and health providers, nor does it, on the other hand, provide sufficient protections in era of evolving data technologies.
Reference:
The Health Privacy Project, Center for Democracy & Technology. Encouraging the use of, and rethinking protections for de-identified (and “anonymized”) health data. Center for Democracy & Technology, June 2009. http://www.cdt.org/healthprivacy/20090625_deidentify.pdf
Related:
Knoppers BM, Saginur M. The Babel of genetic data terminology. Nat Biotechnol. 2005 Aug;23(8):925-7. PubMed PMID: 16082354.
Sharyl J. Nass, Laura A. Levit, and Lawrence O. Gostin, Editors; Committee on Health Research and the Privacy of Health Information: The HIPAA Privacy Rule; Institute of Medicine. Beyond the HIPAA Privacy Rule: Enhancing Privacy, Improving Health Through Research. Washington, D.C.: Institute of Medicine, The National Academies Press, 2009. http://www.nap.edu/catalog.php?record_id=12458
Other Stories in the News
Your Genes Aren’t Covered for That: One Year Later, Gaps in Genetic Discrimination Legislation Reveal the Challenges Ahead. Susannah Baruch, Science Progress. June 29, 2009.
FDA’s Current Ability to Regulate Genetic Testing Is Problematic, FDLI-AAAS Colloquium Attendees Say. Food and Drug Law Institute (FDLI) and the American Association for the Advancement of Science (AAAS) [Press Release]. June 22, 2009. http://www.fdli.org/press/pressrelease/062209.pdf
New Comparative Effectiveness Bill Enhances Dx, Genomics Focus. Matt Jones, GenomeWeb. June 18, 2009.
The GINA Law: Consumer Protection in a New Era of Genetic Testing Research Report. N. Lee Rucker, M.S.P.H., AARP Public Policy Institute, May 2009. http://www.aarp.org/research/health/prevention/fs156_gina.html
1. Re-examine the Privacy Rule de-identification provisions (in particular, the safe harbor method for de-identification);
2. Strengthen accountability by requiring data use agreements;
3. Expand data anonymization options under the Privacy Rule;
4. Provide incentives to use less than fully identifiable data for certain purposes;
5. Provide support through “Centers of Excellence” in de-identification;
6. Require or encourage the use of limited access datasets and other technical solutions;
7. Require education and training of staff de-identifying data; and
8. Consider increasing public transparency regarding uses of de-identified data.
The Project argues that the HHS needs to re-examine the Privacy Rule "to ensure that the de-identification standard remains robust as re-identification becomes easier."
For readers struggling with the "Babel" of data privacy vocabulary (for example, what's the difference between "anonymous" and "anonymized"?), these recommendations may open the door to additional confusion, especially if #3 (above) means that additional categories of protected data are created. The Privacy Rule currently offers two categories data which are exempt from regulation: "de-identified" (presumed to be beyond the risk of re-identification and therefore not regulated) and not fully identifiable, "limited data sets" (incomplete data which includes some identifiers, for example: birth dates). While the Rule's current categories may seem simple, The Health Privacy Project notes that a "one-size-fits-all de-identification approach" does not, one the one hand, meet the diverse data needs of researchers and health providers, nor does it, on the other hand, provide sufficient protections in era of evolving data technologies.
Reference:
The Health Privacy Project, Center for Democracy & Technology. Encouraging the use of, and rethinking protections for de-identified (and “anonymized”) health data. Center for Democracy & Technology, June 2009. http://www.cdt.org/healthprivacy/20090625_deidentify.pdf
Related:
Knoppers BM, Saginur M. The Babel of genetic data terminology. Nat Biotechnol. 2005 Aug;23(8):925-7. PubMed PMID: 16082354.
Sharyl J. Nass, Laura A. Levit, and Lawrence O. Gostin, Editors; Committee on Health Research and the Privacy of Health Information: The HIPAA Privacy Rule; Institute of Medicine. Beyond the HIPAA Privacy Rule: Enhancing Privacy, Improving Health Through Research. Washington, D.C.: Institute of Medicine, The National Academies Press, 2009. http://www.nap.edu/catalog.php?record_id=12458
Other Stories in the News
Your Genes Aren’t Covered for That: One Year Later, Gaps in Genetic Discrimination Legislation Reveal the Challenges Ahead. Susannah Baruch, Science Progress. June 29, 2009.
FDA’s Current Ability to Regulate Genetic Testing Is Problematic, FDLI-AAAS Colloquium Attendees Say. Food and Drug Law Institute (FDLI) and the American Association for the Advancement of Science (AAAS) [Press Release]. June 22, 2009. http://www.fdli.org/press/pressrelease/062209.pdf
New Comparative Effectiveness Bill Enhances Dx, Genomics Focus. Matt Jones, GenomeWeb. June 18, 2009.
The GINA Law: Consumer Protection in a New Era of Genetic Testing Research Report. N. Lee Rucker, M.S.P.H., AARP Public Policy Institute, May 2009. http://www.aarp.org/research/health/prevention/fs156_gina.html
-- J.O.
Wednesday, June 17, 2009
In the Literature: Predictive Health 2.0
The recent double issue of The American Journal of Bioethics (Vol 9 6&7) includes two target articles (followed by open peer commentaries) on the ethical issues of direct-to-consumer (DTC) genomics and social networking.
The issue opens with an editorial by 23&Me's Andro R. Hsu, Joanna L. Mountain, Anne Wojcicki, and Linda Avey: "A pragmatic consideration of ethical issues relating to personal genomics." The editorial offers five points of discussion that the authors find relevant to the discussion of the ethical issues. Facebook users might be surprised to discover that the service is offered as an example of innovative data sharing policies; see point five: "A single data sharing policy cannot fit the needs of all".
The first "target article" reports the result of an attitudes survey about DTC; see: McGuire AL, Diaz CM, Wang T, Hilsenbeck SG. Social networkers' attitudes toward direct-to-consumer personal genome testing. Although the title suggests that "social networkers" are a focus of the article, in reality they are a convenient (or experimental?) survey population--the authors used Zoomerang and Facebook to reach the 1,080 respondents. Of the respondents, 47% reported a pre-existing knowledge of DTC genomics companies like 23&Me, Navigencs, and deCODEme; 6% reported having used one of these services and 64% reported a willingness to use one of the services in the future.
The second "target article" focuses on where all this might be leading; see: Lee SS, Crawley L. Research 2.0: social networking and direct-to-consumer (DTC) genomics. In addition to proposing that social network analysis could be used to explore the impact of these DTC genomics ventures on research, data sharing, and subject recruitment, the authors also ask: "What are the ethical and social implications of new social formations created through the sharing of personal genomic information?" In other words, how will the convergence of Web 2.0 and personal genomic information (PGI) change our social structures?
Commentaries on these articles include a few authored by friends of the PredictER program; see, for example:
Esposito K, Goodman K. Genethics 2.0: phenotypes, genotypes, and the challenge of databases generated by personal genome testing. pp. 19-21.
Caulfield T. Direct-to-consumer genetics and health policy: a worst-case scenario? pp. 48-50.
Other articles and publications of interest:
Genetic privacy and piracy. Nat Cell Biol. 2009 May;11(5):509. PubMed PMID:19404329.
Avard D, Silverstein T, Sillon G, Joly Y. Researchers' perceptions of the ethical implications of pharmacogenomics research with children. Public Health Genomics. 2009;12(3):191-201. PMID: 19204423.
Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, Bottorff JL, Hayden MR; Canadian Respond-HD Collaborative Research Group. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ. 2009 Jun 9;338:b2175. PMID: 19509425.
Borry P, Howard HC, Sénécal K, Avard D. Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors. Fam Cancer. 2009 Jun 2. PMID: 19488835.
Dokholyan RS, Muhlbaier LH, Falletta JM, Jacobs JP, Shahian D, Haan CK, Peterson ED. Regulatory and ethical considerations for linking clinical and administrative databases. Am Heart J. 2009 Jun;157(6):971-82. PMID: 19464406.
Forsberg JS, Hansson MG, Eriksson S. Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results. Eur J Hum Genet. 2009 May 27. PMID: 19471310.
Goddard KA, Duquette D, Zlot A, Johnson J, Annis-Emeott A, Lee PW, Bland MP, Edwards KL, Oehlke K, Giles RT, Rafferty A, Cook ML, Khoury MJ. Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. Am J Public Health. 2009 Mar;99(3):442-5. PMID: 19106425.
Henrikson NB, Bowen D, Burke W. Does genomic risk information motivate people to change their behavior? Genome Med. 2009 Apr 2;1(4):37. PMID: 19341508.
Maliapen M. Clinical genomics data use: protecting patients privacy rights. Studies in Ethics, Law, and Technology. 2009;3(1):Article 1. Available at: http://www.bepress.com/selt/vol3/iss1/art1
Manion FJ, Robbins RJ, Weems WA, Crowley RS. Security and privacy requirements for a multi-institutional cancer research data grid: an interview-based study. BMC Med Inform Decis Mak. 2009 Jun 15;9(1):31. PMID: 19527521.
Mascalzoni D, Hicks A, Pramstaller PP. Consenting in population genomics as an open communication process. Studies in Ethics, Law, and Technology. 2009;3(1):Article 2. Available at: http://www.bepress.com/selt/vol3/iss1/art2
Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet. 2009 Jun 9. PMID: 19506575.
Wilkinson RH. The single equality bill: a missed opportunity to legislate on genetic discrimination? Studies in Ethics, Law, and Technology. 2009;3(1):Article 3. Available at: http://www.bepress.com/selt/vol3/iss1/art3
The issue opens with an editorial by 23&Me's Andro R. Hsu, Joanna L. Mountain, Anne Wojcicki, and Linda Avey: "A pragmatic consideration of ethical issues relating to personal genomics." The editorial offers five points of discussion that the authors find relevant to the discussion of the ethical issues. Facebook users might be surprised to discover that the service is offered as an example of innovative data sharing policies; see point five: "A single data sharing policy cannot fit the needs of all".
The first "target article" reports the result of an attitudes survey about DTC; see: McGuire AL, Diaz CM, Wang T, Hilsenbeck SG. Social networkers' attitudes toward direct-to-consumer personal genome testing. Although the title suggests that "social networkers" are a focus of the article, in reality they are a convenient (or experimental?) survey population--the authors used Zoomerang and Facebook to reach the 1,080 respondents. Of the respondents, 47% reported a pre-existing knowledge of DTC genomics companies like 23&Me, Navigencs, and deCODEme; 6% reported having used one of these services and 64% reported a willingness to use one of the services in the future.
The second "target article" focuses on where all this might be leading; see: Lee SS, Crawley L. Research 2.0: social networking and direct-to-consumer (DTC) genomics. In addition to proposing that social network analysis could be used to explore the impact of these DTC genomics ventures on research, data sharing, and subject recruitment, the authors also ask: "What are the ethical and social implications of new social formations created through the sharing of personal genomic information?" In other words, how will the convergence of Web 2.0 and personal genomic information (PGI) change our social structures?
Commentaries on these articles include a few authored by friends of the PredictER program; see, for example:
Esposito K, Goodman K. Genethics 2.0: phenotypes, genotypes, and the challenge of databases generated by personal genome testing. pp. 19-21.
Caulfield T. Direct-to-consumer genetics and health policy: a worst-case scenario? pp. 48-50.
Other articles and publications of interest:
Genetic privacy and piracy. Nat Cell Biol. 2009 May;11(5):509. PubMed PMID:19404329.
Avard D, Silverstein T, Sillon G, Joly Y. Researchers' perceptions of the ethical implications of pharmacogenomics research with children. Public Health Genomics. 2009;12(3):191-201. PMID: 19204423.
Bombard Y, Veenstra G, Friedman JM, Creighton S, Currie L, Paulsen JS, Bottorff JL, Hayden MR; Canadian Respond-HD Collaborative Research Group. Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey. BMJ. 2009 Jun 9;338:b2175. PMID: 19509425.
Borry P, Howard HC, Sénécal K, Avard D. Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors. Fam Cancer. 2009 Jun 2. PMID: 19488835.
Dokholyan RS, Muhlbaier LH, Falletta JM, Jacobs JP, Shahian D, Haan CK, Peterson ED. Regulatory and ethical considerations for linking clinical and administrative databases. Am Heart J. 2009 Jun;157(6):971-82. PMID: 19464406.
Forsberg JS, Hansson MG, Eriksson S. Changing perspectives in biobank research: from individual rights to concerns about public health regarding the return of results. Eur J Hum Genet. 2009 May 27. PMID: 19471310.
Goddard KA, Duquette D, Zlot A, Johnson J, Annis-Emeott A, Lee PW, Bland MP, Edwards KL, Oehlke K, Giles RT, Rafferty A, Cook ML, Khoury MJ. Public awareness and use of direct-to-consumer genetic tests: results from 3 state population-based surveys, 2006. Am J Public Health. 2009 Mar;99(3):442-5. PMID: 19106425.
Henrikson NB, Bowen D, Burke W. Does genomic risk information motivate people to change their behavior? Genome Med. 2009 Apr 2;1(4):37. PMID: 19341508.
Maliapen M. Clinical genomics data use: protecting patients privacy rights. Studies in Ethics, Law, and Technology. 2009;3(1):Article 1. Available at: http://www.bepress.com/selt/vol3/iss1/art1
Manion FJ, Robbins RJ, Weems WA, Crowley RS. Security and privacy requirements for a multi-institutional cancer research data grid: an interview-based study. BMC Med Inform Decis Mak. 2009 Jun 15;9(1):31. PMID: 19527521.
Mascalzoni D, Hicks A, Pramstaller PP. Consenting in population genomics as an open communication process. Studies in Ethics, Law, and Technology. 2009;3(1):Article 2. Available at: http://www.bepress.com/selt/vol3/iss1/art2
Rogowski WH, Grosse SD, Khoury MJ. Challenges of translating genetic tests into clinical and public health practice. Nat Rev Genet. 2009 Jun 9. PMID: 19506575.
Wilkinson RH. The single equality bill: a missed opportunity to legislate on genetic discrimination? Studies in Ethics, Law, and Technology. 2009;3(1):Article 3. Available at: http://www.bepress.com/selt/vol3/iss1/art3
Wednesday, June 10, 2009
Gene Patents on the Radio
Do you own your genes? Should you have a stake in the profits from gene-related products based on "your" genes? What about the "tens of thousands of patents" issues by the U.S. Patent and Trade Office for gene-related products? If you're interested, Rebecca Roberts discusses Patenting Genes with Joshua D. Sarnoff, Hans Sauer, and Shobita Parthasarathy on The Kojo Nnamdi Show (WAMU 88.5 FM, June 4, 2009.)
Listen to the full show online or read a summary Donald Zuhn's summary, "Gene Patenting Debate Continues" (Patent Docs, June 9, 2009).
Listen to the full show online or read a summary Donald Zuhn's summary, "Gene Patenting Debate Continues" (Patent Docs, June 9, 2009).
Wednesday, April 29, 2009
Genetic Testing and Privacy: Are Our Health Care Policies Adequate?
As a genetics professional who provides genetic testing, I am aware of the fact that many individuals contemplating genetic testing cite insurance and employment concerns as major reasons to forego testing. For that reason, I heaved a sigh of relief on May 21, 2008 when the Genetic Information Non-Discrimination Act (GINA) was signed in to law. First introduced in 1995, at a time when only about 300 genetic tests were currently in use and these for mainly rare diseases, it was called both forward-thinking and premature. Now hailed as the first civil rights law of the new century, GINA will prohibit group and individual health insurers from using a person’s genetic information in determining eligibility or premiums and prohibit employers from using a person’s genetic information in making employment decisions such as hiring, firing, job assignment, or other terms of employment. Guidelines for segregating genetic information from other medical records are expected to be forthcoming.
As I thought more about it, however, I realized that the world has changed rapidly in the 14 years since this bill was first introduced, and that these changes may well undermine the protections that GINA was meant to provide. I see four main threats: 1) more genetic information everywhere, 2) data expansion, 3) genome wide association studies, and 4) electronic medical records.
Under the more information heading, the terms “Genetic information” and “genetic condition” are becoming more difficult to define. We are finding that almost all illness has some genetic component such that making clear distinctions between genetic and non-genetic health information is becoming increasingly meaningless. Under the data expansion category, genetic research has shifted from diseases linked to a single gene (Huntington disease, cystic fibrosis) to more common and complex illnesses characterized by the interactions of multiple genes and environmental factors (asthma, diabetes). There are now over 1500 genetic tests in use and in the not-so-distant future, nearly all health records will include substantial genetic information. Genome Wide Association Studies (GWAS) look for single changes in the hundreds of thousands of base pairs (A,T,C,G) that make up the human genome associated with a particular illness or condition. These conditions may be as serious as breast cancer or as frivolous as what type of ear wax you are prone to develop. These tests are being aggressively marketed directly to consumers and can be ordered on line for less than $400. There is little oversight of the companies marketing these tests and as one who works in the field of genetics, it seems almost criminal to test for one mutation associated with cystic fibrosis out of the more than 1000 known CF mutations and call that information useful in the absence of extensive educational efforts. It may not be long before our patients come to our offices with their printouts from 23&Me and ask to add them to their medical record. The fourth threat may be the shift from paper-based medical records to electronic health records (EHR) with their goal of standardization, compatibility, and ease of transport. In a paper-based system, the greatest protection of individual privacy is chaos, the inability to aggregate a complete record from multiple providers over time. Comprehensive and longitudinal medical records will inevitably contain sensitive information and patients will no longer have the option of selective recall in the sense of “is that depressive episode I experienced in graduate school after being mugged really relevant information for the orthopedist performing my knee surgery twenty years later?” Electronic medical records will make it even more difficult to sequester genetic information.
One other developing trend may also play a role, the refinement of personalized medicine, the ability to target drug therapies customized to each person’s genetic makeup to both improve the effectiveness of current treatments and to reduce side effects. Pharmacogenetic testing is becoming standard practice in selecting drugs and dosages for certain cancers while toxicogenetics, the use of GWAS studies to predict how individuals may respond to certain toxins, is becoming more important in assessing both individual and public health risks. If genetic factors appear to play a role in individual and/or community resistance to flu viruses, who knows what might happen.
Technology moves rapidly while our legislature does not. A bill introduced to fix a problem in 1995 may not be as relevant or as useful in 2009. So while I am still happy that GINA was finally passed, the devil, as they say, is in the details, and it remains to be seen how much protection is actually provided for our patients and their families.
Kimberly A. Quaid, Ph.D.
As I thought more about it, however, I realized that the world has changed rapidly in the 14 years since this bill was first introduced, and that these changes may well undermine the protections that GINA was meant to provide. I see four main threats: 1) more genetic information everywhere, 2) data expansion, 3) genome wide association studies, and 4) electronic medical records.
Under the more information heading, the terms “Genetic information” and “genetic condition” are becoming more difficult to define. We are finding that almost all illness has some genetic component such that making clear distinctions between genetic and non-genetic health information is becoming increasingly meaningless. Under the data expansion category, genetic research has shifted from diseases linked to a single gene (Huntington disease, cystic fibrosis) to more common and complex illnesses characterized by the interactions of multiple genes and environmental factors (asthma, diabetes). There are now over 1500 genetic tests in use and in the not-so-distant future, nearly all health records will include substantial genetic information. Genome Wide Association Studies (GWAS) look for single changes in the hundreds of thousands of base pairs (A,T,C,G) that make up the human genome associated with a particular illness or condition. These conditions may be as serious as breast cancer or as frivolous as what type of ear wax you are prone to develop. These tests are being aggressively marketed directly to consumers and can be ordered on line for less than $400. There is little oversight of the companies marketing these tests and as one who works in the field of genetics, it seems almost criminal to test for one mutation associated with cystic fibrosis out of the more than 1000 known CF mutations and call that information useful in the absence of extensive educational efforts. It may not be long before our patients come to our offices with their printouts from 23&Me and ask to add them to their medical record. The fourth threat may be the shift from paper-based medical records to electronic health records (EHR) with their goal of standardization, compatibility, and ease of transport. In a paper-based system, the greatest protection of individual privacy is chaos, the inability to aggregate a complete record from multiple providers over time. Comprehensive and longitudinal medical records will inevitably contain sensitive information and patients will no longer have the option of selective recall in the sense of “is that depressive episode I experienced in graduate school after being mugged really relevant information for the orthopedist performing my knee surgery twenty years later?” Electronic medical records will make it even more difficult to sequester genetic information.
One other developing trend may also play a role, the refinement of personalized medicine, the ability to target drug therapies customized to each person’s genetic makeup to both improve the effectiveness of current treatments and to reduce side effects. Pharmacogenetic testing is becoming standard practice in selecting drugs and dosages for certain cancers while toxicogenetics, the use of GWAS studies to predict how individuals may respond to certain toxins, is becoming more important in assessing both individual and public health risks. If genetic factors appear to play a role in individual and/or community resistance to flu viruses, who knows what might happen.
Technology moves rapidly while our legislature does not. A bill introduced to fix a problem in 1995 may not be as relevant or as useful in 2009. So while I am still happy that GINA was finally passed, the devil, as they say, is in the details, and it remains to be seen how much protection is actually provided for our patients and their families.
Kimberly A. Quaid, Ph.D.
Monday, February 23, 2009
Consent & Conversation in Population-Based Research
PredictER's Peter H. Schwartz will be presenting the Walter C. Randall Lecture in Biomedical Ethics at the annual Experimental Biology meeting of the American Physiological Society, to be held in New Orleans, April 18-22, 2009. Dr. Schwartz's talk, Consent and Conversation in Population-Based Genetic Research, will take place on Tuesday, April 21st at 2:00 p.m. Additional information is available here.
Abstract: The future of research into the human genome depends on the creation of massive biobanks, databases that combine phenotypic information about individuals (such as their medical history) with genetic information and biologic samples collected from them. Some of the most important biobanks will involve the participation of thousands or millions of people, representing a broad swath of an entire community. But signing up such large numbers raises serious challenges for traditional ideas of consent by research subjects. We need to formulate a new model of ethical research that relies on a conversation with a community rather than just informed consent by individuals.
Amy Lewis Gilbert
Abstract: The future of research into the human genome depends on the creation of massive biobanks, databases that combine phenotypic information about individuals (such as their medical history) with genetic information and biologic samples collected from them. Some of the most important biobanks will involve the participation of thousands or millions of people, representing a broad swath of an entire community. But signing up such large numbers raises serious challenges for traditional ideas of consent by research subjects. We need to formulate a new model of ethical research that relies on a conversation with a community rather than just informed consent by individuals.
Amy Lewis Gilbert
Tuesday, February 17, 2009
Long Term Outcomes of Presymptomatic Testing in Huntington Disease
Huntington disease (HD) is a late onset autosomal dominant neuropsychiatric disorder. Symptoms include a movement disorder, mood disturbances and dementia. The average age of onset is approximately 40 years of age and if one of your parents is affected with the disease, you have a 50% chance of having inherited the genetic mutation that causes HD. Men and woman are equally affected.
In 1993, the genetic mutation that causes Huntington Disease was discovered. This discovery meant that direct genetic testing for the presence or absence of the HD mutation could be offered. Testing is usually offered within a multidisciplinary framework including geneticists, neurologists, psychologists, nurses and social workers and within a testing protocol that involves a neurological examination, pretest counseling, results in person and available follow-up. Estimates indicate that in Europe, less than 20% of individuals at risk for HD takes the test. Estimates for the United States suggest that the uptake of testing is even lower. The lack of a cure for HD, or a treatment that can delay the onset or slow the progression of the disease, is likely a major factor in the low uptake of testing.
Recently, in some HD circles, there have been calls to increase the number of individuals getting tested in order to have a cohort of gene positive individuals ready to participate in future clinical trials. This desire to increase the number of individuals tested is, in my opinion, wrong headed for many reasons, but a recent paper on the long term effects of testing also suggests that caution is in order.
In February of 2009, the European Journal of Human Genetics published a paper examining the long term impact of presymptomatic testing for Huntington disease. The authors interviewed 119 (57 gene carriers and 63 non-carriers) asymptomatic individuals after an average delay of 3.7 years after they received their genetic test result. The main outcomes of interest in the paper were social and psychological adjustment after testing (1).
The results were as follows: The overall scores for social adjustment were similar in carriers and non-carriers and were in the normal range for both groups. Carriers were not more anxious than non-carriers, but current depression was significantly more frequent in the carriers. Prior to testing, there were no differences in the number of carriers and non-carriers who had experienced a depressive episode. After testing, however, the percentage of carriers experiencing depression rose from 42% to 49% while the percentage of non-carriers experiencing depression fell from 45% to 31%. Perhaps even more important is the fact that carriers had significantly higher scores than non-carriers when evaluated with the Beck Hopelessness Scale, considered to be a measure of suicidality. Of note is the fact that while there was one suicide attempt and one hospitalization for major depression after testing in the carrier group, three non-carriers also attempted suicide, one was hospitalized for depression and one hospitalized for a psychotic episode. Despite this evident distress, only 31% of the carriers and 15% of the non-carriers were under psychiatric care and only 36% of the carriers and 15% of the non-carriers were under treatment with antidepressant or anti-anxiety medications. Further investigation indicated that the best predictor for the occurrence of depression after taking the test was the presence of a previous depressive episode. In other words, individuals who have experienced depression prior to testing are more likely to experience depression after testing. Finally, when asked to rate the current impact of the test results on their lives, carriers gave a more negative rating than non-carriers and reported that they had less ability to cope with the test results than non-carriers. Again, it is important to note that more than 25% of the non-carriers reported difficulty coping with the test result.
It is possible to compare these results with a previous study looking at long term outcomes 7-10 years after testing (2). This study of 142 tested individuals and their partners found that carriers and their partners were more distressed immediately after the test. Their outlook appeared to improve somewhat in the 2-3 year post test period but became more negative as the age of onset approached. This study also found that carriers who were lost to follow-up reported more pretest distress than did those carriers who participated in the follow-up study. This finding, which reflects both my own experience and the anecdotal experience of other test center directors, is important because it suggests that most studies examining the impact of testing may tend to underestimate the amount of distress that is being experienced by those who have been tested.
So what do these results tell us? In the 2009 study, almost half of the carriers where experiencing depression after testing. However, almost a third of non-carriers were also experiencing depression. At least two studies have suggested that it might take up to five years for non-carriers to experience a positive change in their quality of life after receiving a favorable test result (3,4). One explanation that has been given is that it takes this long to resolve the emotional state of mourning for the loss of being at risk and the end of doubt about one’s genetic status. Others have hypothesized that that non-carriers may be experiencing 1) survivor guilt for not having the HD gene when others in the family might 2) regret for life decisions made in the past as a function of being at risk, 3) inability to leave behind the at risk mind set, 4) inability to truly believe the test results, and 5) negative reactions on the part of family members (1).
Whatever the explanation, these results indicate that individuals at risk, carriers and non-carriers alike, may be a vulnerable population and that it is particularly important to assess and treat depression before testing and to provide psychological support and psychiatric care after testing. These results also suggest that the decision to be tested should not be made lightly and that the impact of testing may last a long time after results are given.
References:
1. Gargiulo M, Lejeune S, Tanguy ML et al, (2009). Long-term outcome of presymptomatic testing in Huntington disease. European Journal of Human Genetics, 17:165-171.
2. Timman R, Roos R, Maat-Kievet A, and Tibben A. (2004) Adverse effects of predictive testing for Huntington Disease underestimated: Long term effects 7-10 years after the test. Health Psychology 23:189-197.
3. Decruyenaere M, Evers-Kiebooms G, Cloostermans T et al. (2003) Psychological distress in the 5-year period after predictive testing for Huntington disease. European Journal of Human Genetics 11:30-38.
4. Almqvist EW, Brinkman RR, Wiggins S, Hayden MR (2003) Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington disease. Clinical Genetics 64: 300-309.
Kimberly A. Quaid, PhD
In 1993, the genetic mutation that causes Huntington Disease was discovered. This discovery meant that direct genetic testing for the presence or absence of the HD mutation could be offered. Testing is usually offered within a multidisciplinary framework including geneticists, neurologists, psychologists, nurses and social workers and within a testing protocol that involves a neurological examination, pretest counseling, results in person and available follow-up. Estimates indicate that in Europe, less than 20% of individuals at risk for HD takes the test. Estimates for the United States suggest that the uptake of testing is even lower. The lack of a cure for HD, or a treatment that can delay the onset or slow the progression of the disease, is likely a major factor in the low uptake of testing.
Recently, in some HD circles, there have been calls to increase the number of individuals getting tested in order to have a cohort of gene positive individuals ready to participate in future clinical trials. This desire to increase the number of individuals tested is, in my opinion, wrong headed for many reasons, but a recent paper on the long term effects of testing also suggests that caution is in order.
In February of 2009, the European Journal of Human Genetics published a paper examining the long term impact of presymptomatic testing for Huntington disease. The authors interviewed 119 (57 gene carriers and 63 non-carriers) asymptomatic individuals after an average delay of 3.7 years after they received their genetic test result. The main outcomes of interest in the paper were social and psychological adjustment after testing (1).
The results were as follows: The overall scores for social adjustment were similar in carriers and non-carriers and were in the normal range for both groups. Carriers were not more anxious than non-carriers, but current depression was significantly more frequent in the carriers. Prior to testing, there were no differences in the number of carriers and non-carriers who had experienced a depressive episode. After testing, however, the percentage of carriers experiencing depression rose from 42% to 49% while the percentage of non-carriers experiencing depression fell from 45% to 31%. Perhaps even more important is the fact that carriers had significantly higher scores than non-carriers when evaluated with the Beck Hopelessness Scale, considered to be a measure of suicidality. Of note is the fact that while there was one suicide attempt and one hospitalization for major depression after testing in the carrier group, three non-carriers also attempted suicide, one was hospitalized for depression and one hospitalized for a psychotic episode. Despite this evident distress, only 31% of the carriers and 15% of the non-carriers were under psychiatric care and only 36% of the carriers and 15% of the non-carriers were under treatment with antidepressant or anti-anxiety medications. Further investigation indicated that the best predictor for the occurrence of depression after taking the test was the presence of a previous depressive episode. In other words, individuals who have experienced depression prior to testing are more likely to experience depression after testing. Finally, when asked to rate the current impact of the test results on their lives, carriers gave a more negative rating than non-carriers and reported that they had less ability to cope with the test results than non-carriers. Again, it is important to note that more than 25% of the non-carriers reported difficulty coping with the test result.
It is possible to compare these results with a previous study looking at long term outcomes 7-10 years after testing (2). This study of 142 tested individuals and their partners found that carriers and their partners were more distressed immediately after the test. Their outlook appeared to improve somewhat in the 2-3 year post test period but became more negative as the age of onset approached. This study also found that carriers who were lost to follow-up reported more pretest distress than did those carriers who participated in the follow-up study. This finding, which reflects both my own experience and the anecdotal experience of other test center directors, is important because it suggests that most studies examining the impact of testing may tend to underestimate the amount of distress that is being experienced by those who have been tested.
So what do these results tell us? In the 2009 study, almost half of the carriers where experiencing depression after testing. However, almost a third of non-carriers were also experiencing depression. At least two studies have suggested that it might take up to five years for non-carriers to experience a positive change in their quality of life after receiving a favorable test result (3,4). One explanation that has been given is that it takes this long to resolve the emotional state of mourning for the loss of being at risk and the end of doubt about one’s genetic status. Others have hypothesized that that non-carriers may be experiencing 1) survivor guilt for not having the HD gene when others in the family might 2) regret for life decisions made in the past as a function of being at risk, 3) inability to leave behind the at risk mind set, 4) inability to truly believe the test results, and 5) negative reactions on the part of family members (1).
Whatever the explanation, these results indicate that individuals at risk, carriers and non-carriers alike, may be a vulnerable population and that it is particularly important to assess and treat depression before testing and to provide psychological support and psychiatric care after testing. These results also suggest that the decision to be tested should not be made lightly and that the impact of testing may last a long time after results are given.
References:
1. Gargiulo M, Lejeune S, Tanguy ML et al, (2009). Long-term outcome of presymptomatic testing in Huntington disease. European Journal of Human Genetics, 17:165-171.
2. Timman R, Roos R, Maat-Kievet A, and Tibben A. (2004) Adverse effects of predictive testing for Huntington Disease underestimated: Long term effects 7-10 years after the test. Health Psychology 23:189-197.
3. Decruyenaere M, Evers-Kiebooms G, Cloostermans T et al. (2003) Psychological distress in the 5-year period after predictive testing for Huntington disease. European Journal of Human Genetics 11:30-38.
4. Almqvist EW, Brinkman RR, Wiggins S, Hayden MR (2003) Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington disease. Clinical Genetics 64: 300-309.
Kimberly A. Quaid, PhD
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