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.

GINA, The Good News: Engaging the Public

This is the third post in a series of posts in which I share what I see as the ups and downs of the Genetic Information Nondiscrimination Act of 2008 (GINA or H.R. 493). In this post I address a potential positive:

A little discussed portion of GINA may be cause for celebration. Title II, Section 208, Subsection (b) of GINA calls for the establishment of the Genetic Nondiscrimination Study Commission after GINA has been enacted for six years. The purpose of the Commission is to evaluate the status of genetic science, genetic discrimination, public perception, and other factors, and to make recommendations to Congress regarding possible future legislation. Here, it would seem as though Congress has exercised a reasonable amount of foresight. Scientific knowledge is expanding at an amazing rate; faster than society and its laws can react, resulting in public fear and apprehension. Public fears are important and they must be listened to; public fears shouldn't always determine legislative action, but they cannot be brushed aside or ignored. In this case, Congress seemed to understand this dichotomy. They did the research. They listened to experts, and they acted. – Sam Beasley

The Best Predictive Health Ethics Blogs - May 2008

It was a busy month for predictive health news: the president signed GINA, Francis Collins announced his eminent retirement, bloggers reported from important conferences at Case Western and Cold Spring Harbor, and Google announced the debut of Google Health. These events, and others, are reflected in this month's edition of the best blogs on the ethical issues of predictive health.

Are you diseased? Pre-diseased? Potentially diseased? Greg Dahlmann, blog.bioethics.net. 6 May 2008.
In this insightful post, Dahlmann examines how predictive health is changing our concept of disease. When, exactly, does increased risk = illness? Dahlmann writes:

So we're moving from the concept of disease as a state of impaired function to it representing particular sets of probabilities. In the past you were sick when you had a heart attack. Today, you're sick -- or pre-sick, perhaps -- when you have high cholesterol. What about when it's possible to identify constellations of genes that significantly increase your chances of having high cholesterol, or a heart attack. Would that be considered a disease?

Also see Dahlmann's follow up post on "previvors": Blood Matters. Greg Dahlmann, blog.bioethics.net. 11 May 2008.

NHGRI Director Francis Collins to Step Down on August 1. Hsien-Hsien Lei, Eye on DNA. 28 May 2008.
Lei shares the news the Francis Collins will retire from his post this summer and that Alan E. Guttmacher will become acting director. Lei also some thoughts on Collins' book The Language of God.

In All Fairness. Fred Trotter, Fred Trotter: My life and thoughts, often about FOSS in medicine. 23 May 2008.
Following the news coverage on the release of Google Health, Fred Trotter weighs in on the privacy questions. Trotter argues that Google is not a health care provider and is, therefore, not covered by HIPAA. He writes:

Both Google Health and HealthVault are designed to make the process of dissemination of your health information to people you want them to be disseminated to easier. Are they doing that in a secure, privacy respecting way? Excellent question; fodder for further posts. Should they be covered by the same laws that cover your healthcare providers? No.

Workman's Compensation, Stereotypes and GATTACA. Steve Murphy, Gene Sherpas: Personalized Medicine and You. 10 May 2008.
Murphy addresses a few of the potential social consequences of predictive medicine, by examining the following scenario:

Young person goes to 23andME/Navigenics/ETC (They just may add this immediately)....gets predictive testing indicating that he is at a 300 fold increased risk of herniating a disc in his back. Avoids manual labor (plays video games all day) never herniates the disc. Did we do society a service?

23andMe, deCODEme and Navigenics at Cold Spring Harbor. Daniel MacArthur, Genetic Future. 9 May 2008.
MacArthur reports, first hand, from the "Biology of Genomes" meeting at Cold Spring Harbor. In addition to the big players in the consumer genomics movement, the speakers at the event included some ethics and policy experts, like Kathy Hudson from Johns Hopkins. Hudson, MacArthur notes, "responded to the problem of patients being given data of very limited predictive value with a very sensible solution: 'In the absence of demonstrable harm, the default should be to provide the information.'"

Genetic testing ethics - consent forms becoming incomprehensible. Elaine Warburton, Genetics and Health. 7 May 2008.
Warburton covers the Translating ELSI, Ethical Legal Social Implications of Human Genetics Research conference at Case Western University in Cleveland. In this entry she reports on Laura Beskow's comments regarding informed consent and the attitudes and concerns of research participants. Also see Warburton's related coverage of pediatric research ethics discussions at the conference in her post: Genetic Ethics - testing and storing our kids’ DNA. Genetics and Health. 7 May 2008.

The FDA ditches the Declaration of Helsinki. Stuart Rennie, Global Bioethics Blog. 6 May 2008.
Stuart Rennie of Global Bioethics Blog examines the implications of the FDA's decision to abandon the Declaration of Helsinki. While Rennie focuses on the potential impact of this decision on US research overseas, and not specifically on predictive health research, this decision may have far reaching consequences on clinical trials of any sort. Rennie concludes with the following verdict: "the decision would seem to encourage pharmaceutical companies to cut ethical corners when working abroad".

GINA Series: Irrational Bureaucratic Risk Abhorrence [Page 1]. Andrew Yates, Think Gene. 24 May 2008.
This is the first post of a (thus far) four part series on GINA. Each post begins with the introduction:

Recently, President Bush signed GINA, the Genetic Information Nondiscrimination Act, into law. GINA makes it illegal for employers or health insurers to discriminate based on genetics. Virtually the entire genetics community has lauds this legislation, yet few have written why it's wrong that employers and services review objective facts to make decisions. … “It’s not fair…” but why?

The Puzzling Consensus in Favor of the Genetic Information Nondiscrimination Act. Eric Posner, The University of Chicago Law School Faculty Blog. 6 May 2008.
In what may be the most influential post covered in this edition of the best predictive health ethics blogs, Chicago Law professor Eric Posner examines the GINA and asks some compelling questions:

Should the insurance company be permitted to offer the cheap insurance policy only to people who obtain a doctor's certification that a genetic test shows that they belong to the low-risk group? If you think that insurers should be able to discriminate on the basis of visible markers and on the basis of simple doctors' tests for the presence of dangerous diseases, then you should think they should be able to discriminate on the basis of genetic tests. There is no morally relevant distinction between looking at a person's blood for the evidence of infection and looking at his DNA for evidence of susceptibility to a disease. ... The only explanation for the enthusiasm for GINA is that there is an inchoate feeling among people that there is something wrong with the way the insurance market operates.

Medical Genetics Is Not Eugenics. Gabriella Coleman ("biella"), What Sorts of People. 16 May 2008.
Coleman responds to Ruth Cowan’s article in The Chronicle of Higher Education, “Medical Genetics Is Not Eugenics”. Although Cowan sees little value in thinking about the similarities of modern medical genetics and the mid-century eugenics movement, Coleman cautions:

Even if, as [Cowan] rightly states that genetic testing is oriented primarily toward easing human suffering, genetic testing is still entangled with fraught ethical questions about what types of life we value, what is acceptable human life, and what is not—the very sorts of questions central to eugenics.

GINA, The Bad News: Adverse Selection

This is the second post in a series of posts in which I share what I see as the ups and downs of the Genetic Information Nondiscrimination Act of 2008 (GINA or H.R. 493).

Although the legislation will hopefully do much to encourage research and protect predictive health patients, GINA is not all roses. The legislation has numerous critics who have good reasons to be critical. For starters, it sets the stage for adverse selection to occur in the health insurance industry.

Adverse selection happens when an information gap emerges between the beneficiary and the insurer; if the beneficiary knows much more than the insurer, then the insurer is unable to accurately assess the beneficiary’s risk. This information imbalance results in more claims being made than the insurer reasonably predicted. GINA facilitates this phenomenon by allowing beneficiaries access to genetic information, but denying it to insurers. If, for example, a beneficiary finds out from a genetic test that he has a significantly increased risk of developing prostate cancer, he would use that information in deciding whether or not to purchase insurance, but the insurer would be unaware of that increased risk in deciding in which group the individual should be placed, what rate he should be charged, etc.

This is potentially a big problem in the insurance industry, because insurers need to be able to accurately determine risk in order to prevent claims exceeding predicted levels. In the long run, inaccurate risk predictions in the industry will result in rate hikes, and rate hikes will drive healthier participants out of groups. In a the worst case scenario, this could start a downward spiral in the direction of group or insurer insolvency. - Sam Beasley

The Good News: GINA; The Bad News ... ?

A few weeks ago, congress passed the Genetic Information Nondiscrimination Act of 2008 (GINA), a much anticipated piece of legislation, nearly thirteen years in the making. Since the first version of the bill prohibiting genetic discrimination was introduced in Congress in 1995, the legislation has received significant bipartisan support and support from both the Clinton and Bush White Houses. Until recently, however, even in the face of all of that support, just a few members of Congress were able to block the legislation's progress. An agreement has finally been reached, and GINA is now the law of the land; it was signed by President Bush on Wednesday, May 21st.

Regular readers of PredictER Blog know that we have been following GINA; now that it has been signed, it's time to kick the tires and to see what we've got. This is the first of a series of posts in which I share what I see as the ups and downs of this legislation. I'll alternate between the good news and the bad news and conclude with an overall "thumbs up" or "thumbs down". For this post, some good news:

GINA really is a big deal, in the legislative sense. It provides (at least in theory) significant protection from discrimination based upon genetic information in the employment and health insurance contexts. Studies by the NIH and other institutions have revealed that the vast majority of the American public is afraid of being discriminated against in these arenas and believes that it would be wrong for employers and insurers to do so. Furthermore, additional studies have revealed that a significant number of people who would be likely to benefit medically from genetic tests choose to forgo them for fear that they will lose their job, or health care coverage depending upon the results. Along the same lines, many people are choosing not to participate in important research that requires subjects to undergo genetic testing out of fear of discrimination. Clearly, then, GINA should help to allay public apprehensions and to encourage both the pace of research and the practice of personalized medicine.

But … stay tuned for the "bad news". – Sam Beasley

Insurance and Incentives: Private or Public?

[Sam Beasley, a law and bioethics student here at Indiana University, is a new member of the PredictER team. I asked him, as a way of introducing himself to PredictER's readers and friends, to share his thoughts on any topic relevant to the future of predictive health and personalized medicine. I think this is a good post and I hope that we will see more of Sam's contributions to PredictER Blog in the weeks to come. – Jere Odell]

Now, before I begin, I need to state upfront that this is the first blog post I have ever written and I am in no way an expert in politics, public policy, health care provision, insurance. I am also new to the PredictER project, and will be working with Jennifer Girod to investigate the legal and policy implications of predictive medicine. I hope that this experience will broaden and deepen my understanding of health care and public policy. Jere asked me to share what's on my mind, so here it is:

Following the publication of "Insurance Fears Lead Many to Shun DNA Tests" in The New York Times (24 February 2008), the blogosphere lit up with comments on the need to protect people from discrimination—protection that would be, presumably, provided by S. 358, the Genetic Information Nondiscrimination Act (GINA). A few, like David Dooling of PolITiGenomics, observed that the status-quo of insurance provision in the United States may seriously discourage the progress of medical research and personalized medicine. I'd like to take this discussion and move it an inch or two away from the worthy topic of discrimination. Let's think about the research and health care climate:

Which insurance system provides the most incentive to pursue predictive and preventative forms of medicine: a public-funded system or the current private system—one, in which private companies sell insurance to individuals?

As I said, I am certainly not an expert on these issues, but it seems to me that the major means of preventing chronic disease are, in large measure, socially, culturally and politically influenced (think food subsidies, health education in public schools, etc.). If eating a healthy diet, exercising regularly, getting scheduled medical exams, and avoiding unhealthy habits such as smoking and drug abuse are indeed foundational in the pursuit of life-long health, then public ownership would seem to be the way to go.

Public is superior to private because by spreading the bill for health care over the entire population, you would provide increased incentive for voters to support public programs that promote preventative health measures. In private systems where like-situated individuals are pooled together, the healthy will remain concerned about their own health, and not the health of their neighbors. Only when the health of all affects the individual, will the individual begin to care. And if we’ve learned anything in America, the quickest way to get people to care is through their wallet.

I am not arguing here that this is the “fairest” way to do things, (although my liberal leaning makes me inclined to think that basic health care for all is a social good worth our investment) to the contrary; some may abuse the system and choose not to pursue healthy living practices simply because they know that the cost to them will be subsidized by everyone else. I merely intend to say that if we want to stem the tide of deteriorating health in this country, we have got to find a way to make healthy living a social value. Broad-reaching social programs can do a lot to influence individual practices. If we can teach people to live in a way conducive to health, provide incentives for doing so, and get them the care that they need before minor problems turn into major ones [note: emergency room care will never be the most cost-effective means of providing basic health care needs], then we might be able to turn things around. Of course, this is just one piece in a complicated puzzle, but we have got to do better by ourselves, and if a public health care system is a step in the right direction, then we should pursue it. – Sam Beasley

GINA and the "Axis of Evil"?

Although the status of S. 358, the Genetic Information Nondiscrimination Act (GINA), has not changed, [Senator Tom Coburn (Rep., Oklahoma) continues to block the bill], its place in legislative limbo still draws the attention of editors and bloggers. Earlier this month Nature reminded readers of the struggle to unblock the bill and provocatively named Coburn a "rogue senator". Coburn's expressed opposition to GINA evolves, but his strongest argument may be that he wants to protect insurers and employers from (as Nature writes) "an avalanche of frivolous litigation". Several states, however, have passed similar legislation and have not encountered the predicted avalanche in the civil courts. Many writers, including the editors of Nature, worry that Coburn's opposition to the bill is slowing the progress of personalized medicine. In response, therefore, the Nature editorial implicitly calls for the genetic research community to lobby on behalf of the bill. The editors note that "scientists should tell" Senate Majority Leader Harry Reid to break Coburn's hold. Reid could bring the bill to a vote by allowing 30 hours of Senate debate on the topic. However, as the Senate has many bills to address, Reid is unlikely to find 30 hours for GINA.

Among other responses, a post in a widely read political blog, Daily Kos, picked up the story and (like many observers in the United States) quickly assumed the worst of the health insurance industry: "actuaries across the coverage denial sector are salivating at the prospect of putting your genetic information to work for their bosses". Is the insurance industry really that pernicious? Yes, they make money by gambling on the health of individuals … and sometimes they refuse to take a bet, but are they (with Coburn) really worthy of Bush's "axis of evil" rhetoric. Although I have to admit that I wouldn't volunteer my genetic information (assuming that I had it) to potential insurance providers, do we really know that insurance companies are eager to access our genetic information? Don't they already have good predictors and other data to use when assessing the odds of gambling on our health? (Smoking comes to mind.) In the immediate future, I wouldn't be surprised if the consumer genomics market will result in an increase in purchases of insurance policy upgrades. Given that the "predictive" value of genomic testing is very far from absolute, isn't it possible that many will overact to their new found "risks" and subsequently go impulse-shopping for more insurance? Perhaps the insurance companies would use genetic information to market more aggressive and supplemental coverage … would this be unjust "discrimination"? - J.O.

GINA: Behind-the-Scenes Veto Threat

What kept the "Genetic Information Nondiscrimination Act" out of the omnibus? Apparently "Dr. No" (Sen. Coburn, the GINA's persistent foe) wasn't alone in his opposition to the legistlation. "Capitol Hill Watch" by Kaisernetwork.org relays this bit of back-room negotiating from CQ Today (14 January 2008):

A "behind-the-scenes veto threat from the White House apparently kept a popular genetics anti-discrimination measure" (HR 493) from being attached to the FY 2008 omnibus spending bill (PL 110-161), CQ Today reports. Regan Lachapelle, a spokesperson for Senate Majority Leader Harry Reid (D-Nev.), said senior administration negotiators told Senate Democrats that Bush would veto the package if the genetics measure was included. The legislation would bar employers and insurers from using information from genetic testing to determine how much a person's insurance premiums should be or other business decisions, including hiring. According to CQ Today, "Congress will work to clear the bill early this session".

Congress will work to clear ... that's a rather vague forecast. - J.O.

GINA? Not in the omnibus.

In a recent email to the Genetic Alliance listserv, Sharon F. Terry (President and CEO, Genetic Alliance) announced that the Genetic Information Nondiscrimination Act (S.358) "is not included in the omnibus bill that will come out of the rules committee tonight [Dec. 16] in the House". Terry adds that the House "is worried about a veto from the President, and wants the omnibus to be as noncontroversial as possible".

Two versions of the omnibus, H.R. 2764: Department of State, Foreign Operations, and Related Programs Appropriations Act, 2008, have now passed in both the House and the Senate. Before sending the bill to the President, a conference committee of senators and representatives will work to justify differences in the versions. - J.O.

Predictive Health Legislative Update: GINA, HIPSA and more ...

If you are interested in U.S. legislative developments that may impact the progress of predictive health and genetic research, you've probably heard of The Genetic Information Nondiscrimination Act (GINA). If enacted, GINA (S.358) would "prohibit discrimination on the basis of genetic information with respect to health insurance and employment". Although widely supported, GINA's progress has been stalled by the opposition of one legislator, Sen. Coburn [OK]. Coburn has placed a block on the bill and offers an evolving account for his opposition. As reported in Wired, November 17, 2007, Coburn objects to "the possibility that an employer who provides health insurance for its workers could be sued both as an insurer and as an employer". The bill's sponsor, Rep. Slaughter (NY), dismissed the latest justification for Coburn's hold as "creative".

Although GINA has received the most attention from the press and legislators (and rightly so, as it is only one roadblock away from a vote) other bills relevant to predictive health research have also been introduced. Like GINA, two of these were written with the intent to enhance the privacy of medical records. Both of these are currently waiting for review in the Senate's Committee on Health, Education, Labor, and Pensions:

S.1455 National Health Information Technology and Privacy Advancement Act of 2007
Introduced May 23, 2007, this bill aims "to provide for the establishment of a health information technology and privacy system". The bill's sponsor, Sen. Sheldon Whitehouse [RI], and four cosponsors ask for creation of the "Office of the National Coordinator for Health Information Technology". Among other things, this new "nonprofit national health information technology and privacy corporation" would identify rules for the research use of non-identifiable health care data.

S.1814 Health Information Privacy and Security Act (HIPSA)
HIPSA, reviewed here at PredictER Blog, was introduced by Sen. Leahy [VT] on July 18, 2007. While intending, in part, to "promote the use of non-identifiable information for health research", the bill strengthens personal privacy protections. If passed, individuals would be permitted to inspect a copy of this information and would be notified of security breaches. HIPSA also requires the Health and Human Services Secretary to provide "model written authorization for the disclosure" of health information and establishes criminal and civil penalties for intentional violations.

Readers interested in the development of biobanks and genetic databases for pediatric research, will want to follow the progress of a third bill: S.911 Conquer Childhood Cancer Act of 2007. This bill amends the Public Health Service Act to establish a grant mechanism to sponsor the creation of a national, population-based database for pediatric cancer research—the Childhood Cancer Research Network. The Act, introduced by Sen. Reed [RI], would also provide grants for Research Fellowships and for the public awareness and communication efforts of relevant advocacy organizations. This bill was recently reviewed by the Senate's Committee on Health, Education, Labor, and Pensions and placed on the Senate Legislative Calendar (see General Orders, No. 535). A version of the bill is also making its way through the House of Representatives; H.R.1553 is sponsored by Rep. Deborah Pryce of Ohio and was referred to the House Subcommittee on Health on March 16, 2007. - J.O.

Subscribe to PredictER Blog for updates on these and other legislative developments.