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?

Gene Sherpas for CME

Steve Murphy at Gene Sherpas: Personalized Medicine and You has often asserted that physicians will need continuing medical education to understand the latest advances in genetic research and to interpret clinical genetic information. In a recent post, however, he provides a few hints about what he will be doing to make these educational opportunities a reality. Murphy writes:

There is a new hope. An institution being set up by myself and others. We are currently looking for donors and we endeavor to set up educational events and group sessions. We will work with Corporate Genomics, Academic Genetics, Corporate Labs, Academic Medicine to develop training workshops. Interested?

Well Steve, I'm interested (obviously), PredictER has been working on continuing medical education programs for physicians with patients participating in genetic research. We have made plans to offer two initial programs in local clinics here in Indianapolis this summer—we hope to stream these programs to a wider audience as well. While this is one step removed from the clinical use of consumer genomics (we're really focusing on research ethics in the clinic), I hope that our work on the ethical issues of genetic medicine will be of use to your hoped for institution. At the very least, don't forget the ethicists and community advocates when designing your curriculum. Good luck finding donors and keep us posted! – J.O.

Genetic Research - Up to the Task? Educating Health Care Providers

In lively exchanges between bloggers from Gene Sherpas, Genetic Future, and Venture Beat, the ethical implications of private genetic testing and personalized medicine were explored and a number of issues were spotted (see comments from Steve Murphy, David P. Hamilton, and Daniel MacArthur). I find Steve Murphy’s compelling suggestion that physicians in clinical practice lack the time and interest to provide thoughtful guidance to patients on genetic testing and test interpretation both relevant to PredictER's program and worth further assessment.

Like nearly every other academic medical center in the United States, Indiana University (PredictER's home) is interested in determining what a large scale predictive health study would look like. More clearly, researchers are asking: what needs to be in place for a large study to successfully combine genetic information along with other health data and biographical information? To be sure, it could serve as a platform for researchers in almost any biomedical research field, but more to Steve’s point, is it practical or possible to role out a study of this kind in clinics and doctors offices? Is there enough interest and enough time for a primary care doctor to attend to this new type of information?

If there's a deficit of interest and time, this is the moment in which the life sciences community should work to develop both. This not so much a disagreement with Steve’s suggestion as a statement about the ultimate goals of predictive health--there is no doubt that the clinical world of primary care is already pressured to the point of precluding physicians from developing new interests or allotting additional time in their schedules, but balance this fact with the knowledge that the outcomes of predictive health remain to be measured. As the prevalence and usage of these tests increases, so will the understanding of how they are being used and interpreted. So, while many are interested in fostering new research platforms to identify targets for new tests, others (including PredictER) are interested in laying a foundation of ethics outreach, education, and assessment to guide the realization of translational science and personalized medicine. One strategy might be to engage busy, primary care doctors with incentives to pursue relevant continuing medical education prior to initiating fully integrated predictive health projects. To do so, one would need a flexible, responsive curriculum (perhaps an online learning module) available for any physician whose patients are or might be enrolled in a predictive health research study ... but what would issues and subjects would such a curriculum need to address? Here are a few that leap to mind:

- Structure of Predictive Health Studies
A bank containing genetic samples and future research projects drawing on this
- Longitudinal research: from Framingham to today
- Impact on Practice in Primary Care
Personalized medicine: prevention, prognosis, pharmacogenetics
- Ethical Issues
Informed Consent
Vulnerable populations
Confidentiality
Recontacting patients
Withdrawal
Return of genetic information
Selling genetic information

I'd be interested to see how PredictER Blog's readers would change this list. What do primary care physicians need to know? Any ideas?

Predicitive Health & Medical Education: Lost in Translation

When reflecting upon the greatest medical advancements in the last fifty years of medicine, certain broad and worthy categories come to mind. Imaging technology, drug design, and minimally invasive surgery have made great changes in how patients are treated. As a fourth year medical student, I routinely request a CT, suggest a regimen of Gleevac, or recommend a laproscopic procedure. All of these advances have made waves in the practice of medicine, public expectations, and medical education. Predictive health research, however, has not yet fully entered the medical school curriculum.

I doubt whether there is a single undergraduate who gains acceptance to medical school who cannot identify the names Watson or Crick or explain the basic function of DNA. By now, most students are also aware of the recent completion and publication of J. Craig Venter’s genome. Nevertheless, discussions with my peers suggest that medical students may not be fully prepared for the medical and ethical implications of recent genetic research. Predictive health research discoveries are taught, but the potential clinical applications are lost in translation--stuck somewhere on the path from the bench to the bedside . . . or, in my case, from the pages of the textbook to the patient.

For my generation of medical students, predictive health research has the potential to significantly change the practice of medicine. While programs like the Personal Genetics Education Project at Harvard are building interest in predictive health, and while the public is flooded by a confusing array of genetics news reports, what are medical schools doing to prepare future physicians for the predictive health revolution?

Medical students and educators should step up their efforts to join the conversation about the clinical promise and ethical issues of predictive health. We need to start thinking and talking about how we make use of the predictive tools we already have and how we will prepare for future tools. For example, how many of us are ready to explain to new parents the meaning of normal newborn screening results? Are we fully prepared to share the non-watered-down reasons for why we may want a fifty-year old man to get a colonoscopy? Are we ready to address the anxieties of a patient considering a genetic test to better determine her risk of breast cancer? Clearly, students and bloggers like Bertalan Meskó at ScienceRoll are doing their share to spread the word, but we should encourage our mentors and professors to join the discussion. What is the current state of predictive health, and where can we expect it to advance?

[Note: To encourage a public discussion of the ethical, legal and social implications of predictive health research, PredictER Blog will be inviting guest contributions from students, professionals, and interested members of the public. This post from Pat Barrett, a fourth year medical student at the Indiana University School of Medicine and a graduate student of the Indiana University School of Philosophy, is a fitting introduction to this new feature of PredictER Blog. -- J.O.]