Monday, August 31, 2009

The New Fortune Tellers

I can predict the future!  I can tell you your past!  So read the ads.  No, this is not a new Dan Brown novel or a late night infomercial.  It is the promise of those companies that advertise genetic testing for the masses. 

Personal Genetic Testing bypassing the Doctor

Direct to Consumer (or DTC as it is referred to in the medical journals) advertising of medical and quasi medical genetic tests is now widespread and becoming popular.  A person who so desires can send a cheek swab to a laboratory to have their genetic profile analyzed for a whole host of reasons.  What disease are you at risk for?  Who were your ancestors?  What can you do to forestall disease?  This is becoming so popular that the National Institute of Health in conjunction with the Center for Disease Control convened a workshop to discuss the use of personal genomic services and then published in the August issue of Genetics in Medicine a series of commentaries based on the workshop

Validity and Usefulness of the Tests

There are real questions about this testing.  As the first article in the journal states, “Some scientist have voiced concerns regarding the scientific foundation for the clinical validity(CV) and the clinical utility (CU) of PG (personal genomic) tests and the potential impact on our health care system.”  The fact is that for some tests, such as the genetic tests for breast cancer risk, we know that they have a place in the prevention and treatment of disease however for the great majority of these tests, we just do not yet know whether the association of the specific gene or genes with the disease is truly causative and therefore valid and even if valid, if knowing is going to assist in prevention or treatment. 

The Potential Culture War

In one of the commentaries, James Evans and Robert Green discuss the animosity between the scientific community and the DTC companies now selling the services.  They make a distinction between the companies’ science and quality of testing and the messages they then deliver.  “We may disagree with their choice, interpretations or presentations but they have already been transparent enough about their methods that they cannot be considered fraudulent.”  The better companies in the DTC business uphold scientific rigor in testing however they tend to minimize any possibility that medical information used inappropriately or prematurely can lead to real harm, either directly or by leading to medical interventions which carry risk. 

A Trend to Personal Knowledge and Responsibility

I tend to welcome any trend that puts people in charge of their own health decisions however I do worry about testing that is “hyped” and sold rather than arrived at with reason and thought. Personal genomic testing will change medicine and I only hope it will change it in such a way as to improve care while also putting the person at the center of all health care decision making.