Ready or not, here it comes

I’ve posted a couple of comments in recent months on the rapidity with which genetic testing is coming to the consumer market (1, 2). The plummeting cost of gene sequencing is spurring entrepreneurs to offer various testing services online. It can run from testing a few well-known trouble spots to whole genome sequencing. Various health authorities have questioned whether or not, at this stage of genetic knowledge, this is a good idea. Who’s going to interpret the info and advise the client?

Earlier this week the JAMA published a study that highlights this very problem. They found that the front line of health care–primary care physicians–don’t feel prepared to do genetic testing and counseling for common chronic diseases like cancer.

The greatest public health benefit of advances in understanding the human genome may be realized for common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation.

An article about the study on quotes the authors of the study:

The studies consistently
found that primary care physicians feel “woefully underprepared” to
integrate genetics into their practice. This includes having neither
the time nor the skill necessary to obtain and interpret family
histories that might detect disease patterns that merit a referral for
genetic testing or specialty consultation.

“Primary care clinicians are on the front lines of patient care and
they are going to need to be prepared to incorporate genetics into
their practices,” Scheuner said. “Training and educating the healthcare
workforce about the role of genetics in their clinical practice and
increasing the size of the genetics specialty workforce are potential
solutions to barriers we identified.”

They advocate education for physicians and the public about genetic medicine. Fine, but who’s going to do it? What role will organizations like the ACS that interface with both the public and clinicians play?


All I can say is that this isn’t something that is out on the far horizon; it’s happening right now. The technology and the zeal of entrepreneurs suggest that this going to grow very rapidly. If mainstream  medicine doesn’t handle it there are many who see an opportunity to step in with services that fill the gap and, of course, make money.