The Value of Genetic and Genomic Technologies: Workshop Summary by Institute of Medicine of the National Academies

Author:Institute of Medicine of the National Academies
Language: eng
Format: epub
Tags: Health and Medicine : Public Health and Prevention. Biology and Life Sciences : Genetics. Health and Medicine : Medical Technologies and Treatments
Publisher: NATIONAL ACADEMIES PRESS
Published: 2010-11-29T00:00:00+00:00

Commercial Genomics Perspective

Vance Vanier, CEO and president of Navigenics, said that more than 98 percent of the company’s business comes from national physician groups and medical directors of large self-insured employers. An in-house team of genetic counselors is available for both pretest counseling and, for 1 year afterward, for post-test counseling. To date, only a small subset of possible conditions that are deemed clinically actionable are available in the profile. The business is now regulated under the state versions of the Clinical Laboratory Improvement Amendments (CLIA), and Navigenics is currently the only company offering these tests to be approved in all 50 states. Navigenics does not test minors, Vanier said, and patients receive updates relevant to their genome so that they can take advantage of new discoveries.

Vanier said that when the company first launched its genomic profile product, it was popular for reporters to be tested, to speak with one of the genetic counselors, and then to write about their experience. He recalled one particular reporter who was homozygous for every marker included in the screen for macular degeneration, which increased her risk by a factor of between 5 and 10. However she was more interested in the fact that her risk of Crohn’s disease was 0.1 percent higher than normal. When questioned if she had any concern about the macular degeneration risk, she responded that she had talked with her doctor and he had told her to eat more spinach, so she was comfortable with that result. Later she mentioned that her sister has Crohn’s disease, so that was much more emotionally meaningful for her, and she interpreted the Crohn’s risk very differently than a physician or a genetic counselor would.

There are some who are of the opinion that it is “paternalistic” to assume that physician involvement is needed and who argue that if people can understand baseball statistics they should be able to understand genetics statistics. Navigenics is not of that opinion, Vanier said, stressing that physician involvement in genomic testing is extremely important, particularly physician education and medical alignment with regard to such testing. Overselling the usefulness of the genetic testing in this early period would be extremely detrimental, Vanier said. The question that needs to be addressed is how to navigate the course to the distant future when genomics will provide the preventative measures it has the potential for.

Behavioral change, Vanier said, is one outcome of genomic profiling that is frequently overlooked. Emerging data suggest that showing people their genetic profiles is motivating and can compel them to do all the healthy things that physicians have been telling them to do for years but that they never do (e.g., exercise, diet, medical compliance). There are some who believe that if genomic profiling even slightly increases patient compliance and positive behavioral change, it will have been of enormous value to society, regardless of how the screening question plays out.

In terms of evidence of clinical utility, genomics screening is no different than PSA testing or mammograms in that it will take a long time to prove its value.

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