Disclosing Risk: Good Communication or "Doctor-Knows-Best"?

A newly published paper from PredictER's Peter H. Schwartz and Eric M. Meslin, examines the challenges of balancing beneficence and the respect for autonomy in preventive and predictive medicine. In "The ethics of information: absolute risk reduction and patient understanding of screening" (J Gen Intern Med. 2008 Apr 18; [Epub ahead of print] | PMID: 18421509) the authors question whether providing absolute probabilities of risk based, for example, on genetic screening for breast cancer, is always in the best interest of the patient's health. While many argue the respect for the patient's autonomy demands that risk is communicated numerically or graphically, Schwartz and Meslin argue that the disclosures should be made "in the light of careful consideration of patient understanding and possible impacts on uptake and well-being".

Red Herrings and Sexy Science

Anyone feeling a bit overwhelmed by the frequency of news stories reporting new targets for personalized and predictive medicine, will grab some moral support from a recent article in The Washington Post. In "Science Is Leading Us to More Answers, but It's Also Misleading Us" (22 April 2008; HE08) David A. Shaywitz examines the ups and downs of the new biology. In contemporary genetic medical research the paradigm has shifted from investigating "a few favorite genes" to surveying "thousands of initial candidates" and browsing for "important players and pivotal networks". In Shaywitz's view, this has resulted in a lot of noise – sexy science headlines pointing to journals "littered with studies reporting 'disease genes' or 'molecular signatures' that are likely red herrings". This is exasperated by the fact that journals "have little appetite for negative results" and "erroneous results are almost never retracted". To address the hype in genetics, Shaywitz recommends better, more rigorous statistical analysis on the research front and increased caution and scrutiny by information providers and consumers.

One can hardly disagree with a call for better research methods, smarter journalism, and better reading habits, but where does that leave services like PredictER Blog and PredictER News Brief? Here at PredictER we are committed to investigating and addressing the attitudes and concerns of our communities – including: researchers, physicians, legislators and patients. Undoubtedly, some members of these communities will form opinions and pursue projects that leave them fishing for the sexy red herrings of genetic science. Others will develop policies and regulations based on the latest, suspect catch. Knowing this, I'm trying to keep up with the hype. I try to monitor the information, both to identify quality sources, but also to help our investigators assess the impact of the hype. Although the news headlines may not reflect the best science, they do have the potential to influence the public's willingness to participate in and support new medical research. Therefore, we're doing our best to engage the community, even if this means beginning the discussion with the latest hot topics and sexy headlines.

Navigenics Enters Personal Genomics Game ... Meanwhile: "What's a SNP?"

On April 8th, Navigenics announced it will provide genomic testing services to the general public, yet, creating additional competition among other genetic health startup companies such as deCODEme and 23andMe. These businesses are drawing attention by allowing ordinary people to see their genetic makeup and by providing services to help understand their risk for common conditions.

For an initial fee of $2500, Navigenics’ personalized medicine package includes genotyping for 18 listed medical conditions such as Alzheimer’s disease, glaucoma, colon cancer, lupus, breast cancer, prostate cancer, and Crohn’s disease. Saliva, instead of blood, is collected for the genome scan as a less invasive and less hazardous approach. Within three weeks, Navigenics promises to deliver your risk assessment report electronically and provides genetic counseling over the telephone to educate customers on their genetic predispositions and to encourage them to take preventive measures.

The personal genomics industry is growing and potential consumers have choices. For example, 23andMe lets customers see their entire genetic profile of more than 500,000 single nucleotide polymorphisms (SNPs) while Navigenics limits customers to 18 selected conditions, even though it uses a 1 million SNP chip. On the other hand, Navigenics promises the customer access to future technology for an annual fee of $250. Customers’ spit samples are frozen, stored, and re-tested as new associations with SNPs are found.

Hoping to set industry standards, Navigenics proposed 10 criteria for performance, quality, and service for personal genomic services:

1. Validity
2. Accuracy and quality
3. Clinical relevance
4. Actionability
5. Access to genetic counseling
6. Security and Privacy
7. Ownership of genetic information
8. Physician education and engagement
9. Transparency
10. Measurement

With the evolution of personalized medicine and genetic profiling, consumers have more information in their hands. New research initiatives are on the move to understand how consumers act upon this information (i.e. ignore health risks or needlessly worry about slight risks). Navigenics has plans to support future health outcome studies and has recently joined forces with the Mayo Clinic to measure the impact genetic information has on behaviors.

It will be interesting to see whether The Personalized Medicine Coalition adopts or modifies Navigenics standards. Also interesting will be the response from the medical community to risk assessment reports generated by personal genomic businesses such as Navigenics, 23andMe, and deCODEme.

What could be better than knowing your own DNA? This genomic revolution sounds almost too good to be true. Dr. Eric Topol, cardiologist at the Scripps Clinic (ironically a collaborator with Navigenics), listed his comments (December 2007) in an editorial for The Wall Street Journal. Topol presumes it is too soon to tell whether having your genome scanned can be good for your health because there are so many unidentified genes associated with disease risk. He also wonders, as do I, how personal genomics will impact the medical community. His example . . . "When a consumer arrives in his or her doctor’s office to get help in interpreting the genomic data, the doctor is likely to respond: What’s a SNP?" – Katie Carr

[Katie Carr is a graduate student in public health at Indiana University-Purdue University, Indianapolis (IUPUI). In addition to taking classes in bioethics at the IU Center for Bioethics, Katie is working with us to develop an ethical plan for pandemic influenza response.]

Purdue Bioethics: Ethical Issues in Constructing and Using Biobanks

PredictER's Eric M. Meslin, PhD, Director, IU Center for Bioethics, will address the Purdue Bioethics lecture series this Wednesday, April 16th, from 6 to 7 pm. Meslin will provide an overview of the ethical issues in developing and using biobanks for genetic research. The Purdue lecture series (now in its second year) intends "to build opportunities for engagement between philosophy, policy, and science at a campus-wide level and to raise awareness of the ethical implications of biotechnological development for our environment both local and global". The current year's series focuses "on two central themes in bioethics: the ethical issues of climate change and those of issues in medical technologies". Read more about Meslin's lecture or to learn more about the series contact Jonathan Beever or Nicolae Morar at Purdue Bioethcs. Also see the international blog, BlogEthics Purdue.

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.

Racing for the Biobank

Here in Indianapolis the city is preparing for one of the biggest annual gathering of runners in the region. On April 19th thousands of runners and walkers will converge on the Indiana University-Purdue University, Indianapolis (IUPUI) campus for the The 2008 Komen Indianapolis Race for the Cure. While there will be plenty of people milling around after the 5k race and walk, many of the participants will also donate DNA and blood to a predictive health research study. The Susan G. Komen for the Cure Tissue Bank at the IU Simon Cancer Center will collect blood samples for the biobank from both women with and without a high risk for breast cancer. In a press release from the Indiana University School of Medicine, Dr. Susan Clare, a co-principal investigator of the tissue bank, notes that:

Collecting blood from women who have not had breast cancer provides an opportunity for these donors to give a unique gift to science …. Even though these donors will not benefit directly from their donation of blood, they are providing an invaluable resource to enable research that will benefit generations to come.

The upbeat tone in this quotation is nurtured by more than a keen eye for good public relations—past tissue bank drives at the race have been a wild success. So, is this a good way to build a predictive health biobank? Would similar outreach methods work for other diseases? How about a 5k race to cure for diabetes or schizophrenia? Would runners turn out in equal numbers? Would participants be as willing to donate after the race? Undoubtedly the organizers of this tissue bank and the Komen Race for the Cure have done an excellent job of advocating for this research, but is there something about breast cancer or about our culture that might (perhaps disproportionately) encourage potential research participants to join the cause?

Weighing Hope: Living at Risk for Huntington Disease

If you had a parent with Huntington Disease, you would have a 50:50 chance of also having the disease. That's a very high risk - flip a coin - for a disease that has no cure. To make matters worse, the risk itself could strain relationships, lead to social stigmatization and even discrimination. So, if you were at risk for the disease, but had thus far declined a diagnostic, genetic test, would you tell your co-workers, friends and family members about your risks?

Before assuming that you would share news of this risk with all the important people in your life, you might want to read a recent publication by lead author Kimberly A. Quaid, a PredictER team member. In "Living at risk: concealing risk and preserving hope in Huntington Disease" (Quaid KA, Sims SL, Swenson MM, et al. J Genet Couns. 2008 Feb;17(1):117-28. Epub 2007 Oct 18. PMID: 17943424), Quaid et al report the results of open-ended, qualitative interviews of 55 individuals at risk for the disease. Although research on the psycho-social impact of living with the knowledge of genetic risk for Huntington Disease often focuses on the decision of whether or not to be tested and/or whether or not to share the test result, this paper is unique in that it examines: 1) the decisions of those who have not received a genetic test and 2) the ongoing, daily decisions to both disclose and conceal this risk information. After reviewing the unstructured interviews, the authors conclude that some people chose to conceal their risks for many valid reasons, including: to protect themselves from discrimination, to identify the best circumstances in which to share the information with loved ones (especially young children) and to preserve personal hope that they will not succumb to the disease. Quaid et al also remind us that: "Choosing to be tested is, in a way, a decision to disclose one's real risk to oneself. Participants' choosing not to be tested is not denial but a positive way to preserve both hope and their identities as people with a future". The authors encourage clinicians to respect a patient's desire not to be tested. For some patients a genetic test for an incurable disease will not provide helpful information; in fact, for some, the "knowledge … of HD may serve to destroy hope".