DTC Genomics and the Future of Healthcare Richard R. Sharp Director, Bioethics Research and Staff, Genomic Medicine Institute October 2, 2009

Dr. Sharp has no commercial relationships of any kind with any for-profit company involved in the development of DTC genetic testing. Dr. Sharp is the Principal Investigator on two research grants from the National Institutes of Health examining patient perspectives on genomics and personalized medicine (R01 HG004500, R01 HG004877). Disclosure

Dr. Sharp has no commercial relationships of any kind with any for-profit company involved in the development of DTC genetic testing.

Dr. Sharp is the Principal Investigator on two research grants from the National Institutes of Health examining patient perspectives on genomics and personalized medicine (R01 HG004500, R01 HG004877).

Give a very quick overview of current ethical and policy debates about DTC genomics Describe several key areas for future research 2 Goals

Give a very quick overview of current ethical and policy debates about DTC genomics

Describe several key areas for future research

DTC Testing

Distinguishing DTC Services Ancestry testing & other “recreational” services Genetic results are viewed as useful by the client but those results are irrelevant to disease prevention or medical care. Quasi-medical services Genetic results are presented to, or understood by, a client as having some relevance to healthy living, disease prevention, future medical care, etc. (e.g. nutrigenomic services, “personal genomics”). Medical services Genetic results that would be regarded by an expert physician as relevant to disease prevention or medical care are presented directly to a client by someone who is not a healthcare professional.

Ancestry testing & other “recreational” services

Genetic results are viewed as useful by the client but those results are irrelevant to disease prevention or medical care.

Quasi-medical services

Genetic results are presented to, or understood by, a client as having some relevance to healthy living, disease prevention, future medical care, etc. (e.g. nutrigenomic services, “personal genomics”).

Medical services

Genetic results that would be regarded by an expert physician as relevant to disease prevention or medical care are presented directly to a client by someone who is not a healthcare professional.

Unregulated medicine masquerading as recreation? Katsanis SH, Javitt G, Hudson K, Science 2008 DTC results lack analytic and clinical validity Hunter DJ, Khoury MJ, Drazen JM, NEJM 2008 Genetic counseling and privacy protections needed Wolfberg AJ, NEJM 2006 Opportunities for medical follow-up should be available Howard HC, Borry P, Personal Med 2008 Concerns about DTC Genomics

Unregulated medicine masquerading as recreation?

Katsanis SH, Javitt G, Hudson K, Science 2008

DTC results lack analytic and clinical validity

Hunter DJ, Khoury MJ, Drazen JM, NEJM 2008

Genetic counseling and privacy protections needed

Wolfberg AJ, NEJM 2006

Opportunities for medical follow-up should be available

Howard HC, Borry P, Personal Med 2008

Optimism about DTC Genomics Expanded access to genetic information may prompt some individuals to assume more responsibility for health-promoting behaviors. After receiving personal genomic test results, individuals may be more open to discussing diseases that may run in their family with their doctors and relatives. DTC genetic services may play a major role in developing the next generation of strategies for patient education and risk counseling (particularly strategies that do not involve physicians). Foster MW, Sharp RR. Nature Reviews Genet 2008.

Expanded access to genetic information may prompt some individuals to assume more responsibility for health-promoting behaviors.

After receiving personal genomic test results, individuals may be more open to discussing diseases that may run in their family with their doctors and relatives.

DTC genetic services may play a major role in developing the next generation of strategies for patient education and risk counseling (particularly strategies that do not involve physicians).

Foster MW, Sharp RR. Nature Reviews Genet 2008.

(1) Need to establish clear scientific standards for assessing personal genomic tests (2) Need a multidisciplinary research agenda to fill knowledge gaps in clinical validity and utility (3) Enhance credible knowledge synthesis and information dissemination (4) Link scientific findings to evidence-based recommendations for use of personal genomics Assess how personal utility can affect health benefits, costs, and risks by developing appropriate metrics Genet Med 2009;11(8):559-67 Where are we now? NIH-CDC Workgroup

(1) Need to establish clear scientific standards for assessing personal genomic tests

(2) Need a multidisciplinary research agenda to fill knowledge gaps in clinical validity and utility

(3) Enhance credible knowledge synthesis and information dissemination

(4) Link scientific findings to evidence-based recommendations for use of personal genomics

Assess how personal utility can affect health benefits, costs, and risks by developing appropriate metrics

Genet Med 2009;11(8):559-67

Research Needs 1. Expanded predictive capacity Which models of information delivery enhance pt understanding of risk factors (gx and non-gx)? How can we equip physicians with the tools they need to deliver predictive information efficiently and effectively? What privacy protections are needed for genomic data? Current approach --> expanded access (e.g., researchers & families) How should we conceptualize a physician’s “duty to warn” pts and family members about inherited risks?

1. Expanded predictive capacity

Which models of information delivery enhance pt understanding of risk factors (gx and non-gx)?

How can we equip physicians with the tools they need to deliver predictive information efficiently and effectively?

What privacy protections are needed for genomic data?

Current approach --> expanded access (e.g., researchers & families)

How should we conceptualize a physician’s “duty to warn” pts and family members about inherited risks?

Research Needs 2. Earlier identification of disease Is personal awareness of genetic risk factors predictive of improved health outcomes? What burdens and non-financial costs may be associated with earlier identification of disease (anxiety, distress, moral judgments)?

2. Earlier identification of disease

Is personal awareness of genetic risk factors predictive of improved health outcomes?

What burdens and non-financial costs may be associated with earlier identification of disease (anxiety, distress, moral judgments)?

Research Needs 3. Interventional strategies What factors are associated with health-promoting behaviors? How can we do a better job of motivating patients to engage in activities that promote good health? [Smoking, diet, exercise, stress, etc.] How can we encourage physicians and other healthcare professionals to discuss inherited risks, prevention, etc.? How can we avoid over-moralizing health-promoting behaviors? With knowledge comes responsibility

3. Interventional strategies

What factors are associated with health-promoting behaviors?

How can we do a better job of motivating patients to engage in activities that promote good health? [Smoking, diet, exercise, stress, etc.]

How can we encourage physicians and other healthcare professionals to discuss inherited risks, prevention, etc.?

How can we avoid over-moralizing health-promoting behaviors?

With knowledge comes responsibility

Research Needs 4. Larger societal implications of PM: Episodic disease care --> proactive/long-term health maintenance Who will emerge as trusted authorities on health promotion? Medical professionals Private companies Governmental agencies Patient-centered organizations Individual patients (challenges to epistemic authority of phycians) How can we avoid over-moralizing health promotion? With knowledge comes responsibility How can we manage the extraordinary optimism about PM? Early experiences will play a major role in long-term success

4. Larger societal implications of PM:

Episodic disease care --> proactive/long-term health maintenance

Who will emerge as trusted authorities on health promotion?

Medical professionals

Private companies

Governmental agencies

Patient-centered organizations

Individual patients (challenges to epistemic authority of phycians)

How can we avoid over-moralizing health promotion?

With knowledge comes responsibility

How can we manage the extraordinary optimism about PM?

Early experiences will play a major role in long-term success

DTC Genomics and the Future of Healthcare Richard R. Sharp Director, Bioethics Research and Staff, Genomic Medicine Institute October 2, 2009