Direct-to-Consumer Genomics: Harmful or Empowering?
Thanks to recent scientific advances and plunging costs in genetic sequencing, consumers
now can order simple, inexpensive, mail-in genetic tests to learn more about health
risks, inherited traits and ancestry. But, is it a good idea to bypass your doctor’s
office when it comes to interpreting health risks?
New technology means grappling with new questions of ethics, best practices and access
to information. In an article published in Missouri Medicine, Joel Eissenberg, Ph.D., professor of biochemistry and molecular biology at Saint
Louis University, explores questions that stem from these advances, which have the
effect of separating the physician-patient relationship from access to new personal
Some companies offer DNA tests via a mail-in saliva sample. Once the sample is tested,
the company provides consumers with a report showing whether they are a carrier for
any of over 35 diseases, as well as information about traits and ancestry. Participants
might learn, for example, that they carry a genetic variation for cystic fibrosis
or hereditary hearing loss. Carriers may pass along these genetic variations to a
child, who could develop the condition if both parents carry and pass on the variation.
Other tests might find that a consumer carries a genetic variation that increases
the risk of breast cancer or Alzheimer’s disease. In the case of breast cancer, preventive
measures, like regular screening via mammography or preventive surgery, may offer
a chance to limit the risk of developing cancer. On the other hand, there is no proven
medical treatment for Alzheimer’s disease.
It is important to stress that genetic risk is not the same as genetic destiny.
Joel Eissenberg, Ph.D.
In the article, Eissenberg notes several areas of concern for consumers as they attempt
to interpret their personal information without the help of a physician or genetic
counselor, including a limited understanding of genetics, confusion about disease
risk and anxiety caused by new information in the absence of guidance from a medical
Eissenberg concludes, however, that individuals should be able to access their own
personal genome data.
"In an open society, maximizing autonomy is a virtue," he added. "Knowledge is power."
He notes that, in many ways, we’ve already moved along the path of patient-initiated
testing, with digital thermometers, blood pressure cuffs, blood sugar monitors and
pregnancy testing kits that give the public direct access to health information.
In theory, understanding genetic risk could help guide life decisions, such as encouraging
regular cancer screenings, a healthy diet and exercise to offset some genetic risks
for some illnesses. (Though, some research has found that communicating DNA-based
disease risk has little or no effect on smoking and physical activity.)
“At its best, direct-to-consumer genomics testing could eventually become like other
forms of home medical testing – another way for people to take personal control of
their health and wellness,” Eissenberg said.
At the same time, he urges caution in how these tests are marketed, noting that currently
they are not able to offer useful predictions or recommendations for many diseases.
“Today, however, genomics testing to assess risk for complex diseases rests on a weak
foundation of clinical validation. Thus, in most cases, genomics data cannot serve
as a guide to action.”
Finally, while Eissenberg does not believe medical paternalism is warranted in restricting
access to direct-to-consumer tests, he shares several instances in which consumers
may benefit from consulting with their physician or a genetic counselor: to prepare
for adverse news, to help interpret risk, to prescribe a risk response and to counsel
caution in over interpretation.
But the bottom line?
"It is important to stress that genetic risk is not the same as genetic destiny,"
Established in 1836, Saint Louis University School of Medicine has the distinction
of awarding the first medical degree west of the Mississippi River. The school educates
physicians and biomedical scientists, conducts medical research, and provides health
care on a local, national and international level. Research at the school seeks new
cures and treatments in five key areas: cancer, liver disease, heart/lung disease,
aging and brain disease, and infectious diseases.