Retirement and Risk: Betting on Your Genes?

Jane Sarasohn-Kahn of Health Populi points to an interesting report from the Society of Actuaries. In a survey of Americans age 45 to 80 both pre-retirees and current retirees are most concerned about the cost of health care in retirement. Pre-retirees worry about paying for "adequate care" and current retirees worry about paying for "long-term care". (These do not seem like mutually exclusive categories to me, but maybe I need to re-read the document: Understanding and Managing the Risks of Retirement: 2007 Risks and Process of Retirement Survey Report.) From a predictive health perspective, I wonder how personalized genetic information might change the risk perceptions and behaviors of those making retirement plans. Would, for example, a pre-retiring employee opt to work longer after acquiring a genetic test indicating an increased risk for a specific kind of cancer? If such a pre-retiree also learned that the peek incidence for almost all cancers is in late middle age and tapers off after about 70 years of age, they might work an extra decade just to be more certain that cancer wasn't "in the cards". On the other hand, would current retirees with genetic information that suggested a long (if not painless) lifespan purchase more aggressive insurance for long-term care? - J.O.

Dr Watson's Genetic Counselor: Witty or Insulting?

Today's issue of Nature [subscription required] includes a letter responding to Wheeler DA, et al. The complete genome of an individual by massively parallel DNA sequencing. Nature 452, 872-876 (17 April 2008) | doi:10.1038/nature06884. The author of the response, a genetic counselor, lifts a layer off the science publishing hype that surrounds anything about the human genome in this era. Also see the very insightful and witty table comparing two potential personal genome and genetic counseling clients: "Dr. Watson" and a "lay patient".

Here's a sample:

- Dr. Watson: Thinks the $1 million cost is a good deal - Lay Patient: Worried about the cost of a - consultation
- Dr. Watson: Brings in sequence data on a hard drive - Lay Patient: Brings in records about sinus infections
- Dr. Watson: Chose to have Apo-E sequence redacted - Lay Patient: Expects to learn blood type
- Dr. Watson: Shares 1.68 million SNPs with Craig Venter - Lay Patient: Googles SNPs to find out who they are

Well said! But gee, the "lay patient" must be a real dimwit ... if I ever need a genetic counselor, I'm going to do my homework first! - J.O.

Source: Roche MI. A case of genetic counselling for Dr Watson. Nature 453, 281 (15 May 2008) | doi:10.1038/453281a; Published online 14 May 2008.

Resource Recommendation: NIH Points to Consider - GWAS and IRBs

Genome-Wide Association Studies (GWAS): NIH Points to Consider for IRBs and Institutions in their Review of Data Submission Plans for Institutional Certifications Under NIH's Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) 12 November 2007. Accessed 12 May 2008 from: http://grants.nih.gov/grants/gwas/gwas_ptc.pdf

These guidelines go beyond the regulatory requirements of 45 CFR part 46 as outlined by the OHRP's 2004 policy guidance regarding privacy and biobanks (see NOT-OD-05-020 and http://www.hhs.gov/ohrp/humansubjects/guidance/cdebiol.pdf). In addition to addressing the NIH's recent emphasis on open-access publication in the context of genomic research, this document provides a de facto outline of the many consent, privacy, and disclosure issues in biobank research. Although it is a must read for anyone conducting or reviewing NIH supported GWAS research, it is also an excellent resource to skim when thinking about the ethical issues and risks of benefit sharing and biobank research.

Translating ELSI – From a Conference at Case Western to the World

An exciting conference occurred last week in Cleveland, Ohio on the past, present, and future of research into the ethical, legal, and social implications genetics (so-called "ELSI" research). If the large number of interesting presentations at this conference is any indication, the field is flourishing. Although I saw relatively few presentations (I was only there for part of the conference), the discussions, the turnout, and the book of abstracts show the rigor and creative energy of a thriving, international group of scholars.

As part of a panel on Saturday morning (May 3rd), I presented a short talk entitled "PredictER: Indiana University's Experience in Translating Predictive Health Ethics Research into Practice". The presentation covered the work that we've been doing at the IU Center for Bioethics on the ethical and legal aspects of predictive health research. Other speakers in the same session described similar work under way in Kyoto, Japan and in Newfoundland, Canada. Genetics is truly a global field, and, thus, so is the project of examining the ethical, legal and social implications of the science and medicine. If we want to insure the ethical practice of genetic science and the equitable sharing of its benefits, the global participation exemplified by the work at this conference, must become a common feature in the investigation of the ELSI of predictive health research. – Peter H. Schwartz

One Year of PredictER Blog

PredictER Blog turns one today! To mark the date, here is a list of the 10 most popular posts:

1. HIPSA: The Health Information Privacy and Security Act of 2007 - Thursday, July 19, 2007

2. Texas: Your Boss, Your Medical Records and the Information Economy - Saturday, March 22, 2008

3. Get Your Genetic Test Results Online and Who Needs a Physician? – Katherine Drabiak, Thursday, November 15, 2007

4. Predictive Health Legislative Update: GINA, HIPSA and more ... - Monday, December 17, 2007

5. Smith-Lemli-Opitz Syndrome and a Florida “Wrongful Birth” Case - Wednesday, July 25, 2007

6. Biomedical Research Ethics 2.0: MySpace and Pediatrics - Tuesday, January 8, 2008

7. Minnesota and Genetic Privacy: Why the Rule of Law is Good for Research – Katherine Drabiak, Wednesday, September 26, 2007

8. Navigenics Enters Personal Genomics Game ... Meanwhile: "What's a SNP?" – Katie Carr, Wednesday, April 16, 2008

9. Health Risk Assessments in the Workplace: Clarian Health, Indianapolis. - Sunday, August 19, 2007

10. Newborn Screening: An Update on Minnesota – Katherine Drabiak, Friday, November 16, 2007

Predictive Health: Best Ethics Blogs - April, 2008

This issue of the "best" predictive health ethics blogs includes entries on education, eugenics, genetic counseling, genetic testing, personal genomes and privacy.

Education

More on the need for science education. Sue Trinidad, Women's Bioethics Blog. 11 April 2008.
How will tomorrow's voters make informed decisions about the predictive health research and medicine. Sue Trinidad looks at the results of a recent evaluation (see: PMID: 18245328) of submissions to the DNA Day essay contest for high school students; the forecast is not good. After reading comments like:

Genetics create a perfect being. Change the genes. Make that child perfect. There's no better solution to an impending health care crisis. … What we can have is a sea of people who all look brilliant, who are all smart and who all have perfect eyes, nose and lips. It's a perfect society, what more could we want?

Trinidad calls for improved K-12 science education:

[T]hese are the responses of students who were willing to participate in an essay contest about genetics. What must be the level of understanding among those who wouldn't bother? Clearly, CLEARLY, we need to do a better job of K-12 science education.


Eugenics?

Genetic DisEnhancement -- Does reproductive autonomy extend to choosing a disability? Linda MacDonald Glenn, Women's Bioethics Blog. 13 April 2008.
Following the recent news from the UK that the government will remove references to deafness from the proposed Human Fertilisation and Embryology Bill, a decision that will permit couples to use preimplantation genetic diagnosis to select a child with congenital deafness, Glenn questions the broader implications of the decision:

My concern about removing the clause banning the creation of disabled children entirely, is why stop at deafness? Aren't the primary purposes of medicine to heal, to cure diseases, restore, and alleviate suffering? … So the question is how far does reproductive autonomy go? Nobody wants to see a fellow human being struggle or suffer, especially in the name of 'reproductive autonomy.'

Whose Normality? D. Joy Riley, bioethics.com. 17 April 2008.
After reading that a economically disadvantaged couple in India accepted a child with Craniofacial Duplication as potentially a reincarnated deity, Riley wonders about Western notions of "normal" in the context of prenatal genetic diagnosis. Riley is alarmed by the concept that prenatal screening for Huntington's Disease "could eliminate this entire population!" The author asks:

Who defines ‘normal’? Is normal equal to “without disease or abnormality”? If so, when? Is normal to be born without disease, or to be born with no disease or disorder present at birth, AND no genes for known disorders that will develop later in life, like breast cancer, familial polyposis of the colon, or Huntington’s Disease?


Genetic Counseling

Now this is why we need genetic counselors. SciPhu. 25 April 2008.
After writing (in an earlier post) that reliable predictive testing may render the job the genetic counselor obsolete, the author of SciPhu reads a paper by lead author Kimberly Quaid (a PredictER team member). SciPhu calls the experience "eye-opening". When it comes to "high risk tests", such as a test for Huntington's Disease, SciPhu concludes:

The final take home message must be that not testing for a condition has significant value, especially when treatment options are scarce or non-existent. … Hope is sometimes a life saver. Knowledge on the other hand, can put peoples lives in ruins.


Genetic Testing

Over-regulation. Steve Murphy, Gene Sherpas: Personalized Medicine and You. 8 April 2008.
In this "follow-the-money" assessment of genomic medicine, Murphy points to the disproportionate influence of the business sector: "Genomic Medicine is being driven by business. Why? Because academia has failed to take the bull by the horns. Why? They are comfortable in their own realm. This is a stretch for them." In Murphy's view, while business sees potential money in testing, less emphasis is placed on genetic counseling and other genetic services. In the long run, however, this lop-sided approach may hurt the life sciences industry. Murphy cautions that the direct-to-consumer genetic testing push may be annoying all the wrong people—some of the big names on the beltway: "AMA, ACP, SACGHS, FDA, CMS, GAO, US Senate, Department of HHS, FTC, ACMG, NHGRI..." In other words, "over regulation" may be on the way.

The gap is widening on genetic testing, too. Ricki Lewis, blog.bioethics.net. 14 April 2008.
Following a post on the widening gap between public perceptions and the reality of the current state of the art in stem cell science, Ricki Lewis writes on a similar gap in the genetic testing industry. Lewis warns that whole-genome association tests may not be ready for the consumer market:

The truth is, and the direct-to-consumer company websites actually say so in the fine print ... Consumers may not be aware of these limitations, nor realize that “link,” “marker,” and “association,” have precise scientific meanings.

After reciting the disclaimers, Lewis doubts the services provided by 23andMe, Navigenics, and deCODEme are legitimately non-medical and asserts:

It isn’t ethical to market DNA tests based on whole genome population-based studies without randomized, controlled clinical trials, replication, and validation. ... Whether considering stem cells or DNA tests, that’s simply the way that good medical science is done.

The Ethics of Genetic Testing. William Martin, Free and Wandering Thought. 18 April 2008.
After reporting his less than stellar performance on a recent "biopsych test", Martin shares a few free thoughts on the ethics of genetic testing for diseases like Huntington's and Bipolar disorder. Martin worries about where our society will draw the lines for the appropriate use of genetic information. Like many, he anticipates that trouble in the insurance industry and asks:
"What happens when insurance companies find out you are XX% likely to develop a disease?"

With this in mind, Martin applauds Paul Wellstone's drafted "Mental Health and Addiction Equity Act", which, as Martin reports, might have some impact on how insurance companies will (or will not) use genetic information to determine coverage for mental health disorders.

Personal Genomes and the Bioscience Industry

The Personal Genome discussion. Sandra Porter, Discovering Biology in a Digital World. 24 April 2008.
Porter provides a summary of panel discussion at the University of Washington. At the event Bill Gates, Eric Lander, Maynard Olson, Leena Peltonen, and George Church fielded questions from the audience about the personal genomics revolution. Porter summarizes responses to some really interesting questions, including:

Should people be given information about genes that are related to diseases if there's nothing that can be done?
What are options for the personal genome to benefit third world populations?
How will personal genomics affect privacy?
Are we going to make designer babies?

Also see Deepak Singh's thoughts on the discussion at bbgm.

Personal Genomics Takes a Bashing on Physician Oversight, Financial Backing, and Privacy. Hsien-Hsien Lei, Eye on DNA. 21 April 2008.
Lei reviews the "snarky" news coverage of the consumer genomics industry published in Forbes and BusinessWeek. While Forbes reports that New York's State Department of Health has sent threatening letters to some direct-to-consumer genetic testing companies ("jail-time"!), BusinessWeek focuses on Google's role in supporting the industry. Lei concludes: "If anyone ever organizes a biosciences startup school, they need to put regulatory affairs, investment choices, and privacy concerns on the syllabus!"


Privacy

A new model for genetic privacy: you don't have any. Daniel MacArthur, Genetic Future. 20 April 2008.
After perusing a perspective piece in Nature Reviews Genetics, MacArthur notes that the authors call for a paradigm shift in the approach to research subject privacy, he comments: "Essentially, they argue that 'the reality of the new genetics and genomics urges us to abandon the traditional concept of medical confidentiality …'." In MacArthur's assessment, the authors:

[A]rgue for a strategy of "maximizing data protection while informing people about its limits". In other words, doing your best to limit disclosure of individual health data, while clearly informing participants of the fact that their privacy can't be guaranteed.

Although he sees the value to the science and acknowledges the risk to privacy, MacArthur wonders how these changes might influence the future of human subjects research:

[W]ill such a policy discourage people with a clear family history of genetic disease from participating in large-scale cohort studies (for insurance reasons), thus reducing the power of such studies to detect disease-associated variants? Will it create a generation gap in research participation, with conservative older people shunning studies while the children of the Facebook era - who engage in public disclosure of information with a willfulness that seems shocking to their elders - embrace participation?

Biobanks for Breakfast

On April 25, 2008, a collection of community leaders, top medical researchers, and statewide biotech industry leaders met to discuss the bioethical and legal issues surrounding biobanks in Indiana. Biobanks are a growing resource in biotech research. They contain samples of human biological specimens and are often linked in varying degrees to the personal health and demographic information of the donor. Biobanks range from the very small disease specific collections of tissue to the very large national sponsored banks of several million specimens incorporating several different types of biological material from persons both healthy and with known disease. Ownership and commercial involvement are among the most difficult ethical issues in developing successful biobanks. The Bioethics for Breakfast group considered these issues along with Indiana’s role in future biobanking by asking attendees to think about the following questions:

- Are you willing to donate your DNA to a biobank for medical research?
- Are you comfortable allowing Indiana companies to profit by developing commercial products from your samples and donations?

Guest speakers at the event included:

David Flockhart, M.D., Ph.D. , Chief of the Division of Clinical Pharmacology at the Indiana University School of Medicine – Dr. Flockhart outlined the national and international status of biobanks.

Mervin C. Yoder, Jr., M.D., Richard and Pauline Klingler Professor: Department of Pediatrics, Indiana University School of Medicine – Dr. Yoder discussed the therapeutic use of biobank samples.

Andrew R. Klein, J.D., Paul E. Beam Professor of Law, Indiana University School of Law - Indianapolis – Prof. Klein led the group in discussion of the difficult ethical and legal issues.

The Bioethics for Breakfast series is co-sponsored by the Indiana University Center for Bioethics and the law firm of Sommer Barnard. – Patrick Barrett