Depending upon who you ask, genomic medicine has arrived. Already, researchers and oncologists are routinely scanning genomic sequences in tumor-normal pairs, seeking to match cancer patients with the right treatments at the right time. Every day, genetic counselors help parents-to-be navigate the murky waters of prenatal genetic testing.
For most people, this may not all mean much just yet—the number of patients who have had their genomes or exomes scanned for medical reasons is still small. But for some, clinical sequencing is right now being used to great effect.
As sequencing costs fall and clinical utility expands beyond rare diseases, cancer, and prenatal considerations, more and more physicians will be ordering more and more genomic testing.
But ethicists and geneticists are concerned that a lack of genomics training within the broad medical community could spell disaster when it comes to informed consent.
It is generally acknowledged among patients scheduled for, say, a routine CT scan, that there is a slim possibility the test might pick something unexpected up. “When it comes to genetics, we cannot necessarily make the same assumptions about what our patients understand,” Tanya Eble, manager of adult genetics at Baylor College of Medicine’s department of molecular and human genetics tells GEN. “It is incumbent on the genetic counselor or medical geneticist to educate the patient about the possible risks, benefits, and limitations of testing.”
According to Maegan Roberts, genetic counselor and instructor of medical genetics at the Mayo Clinic in Jacksonville, FL, “the most important step in this process is the initial counseling session—prior to ordering whole-exome—and the consent process.”
“My personal concern is that physicians who are not trained in medical genetics will start ordering this testing and not take the needed steps to educate and consent the patient appropriately,” Roberts tells GEN. “We all know that physicians are way too busy to spend an hour or two with each patient discussing the ins and outs of genetic testing.”
Should clinical labs choose to heed the ACMG working group’s recommendations, “the additional burden on genetic counseling services [would be] a huge factor,” Megan Allyse, a postdoctoral research fellow at the Stanford School of Medicine, tells GEN. “ACMG recommends that clinicians should be responsible for providing pre- and post-test genetic counseling, while recognizing that many physicians will not have the sufficient expertise and will need to refer for genetic counseling.”
Problem is, Allyse notes, “there is already a significant shortage of qualified genetic counselors in the U.S. and it is by no means clear that the existing supply could meet this additional demand.”
At press time, the American Board of Genetic Counselors counts 3,026 certified professionals among its ranks. For the sake of comparison, the U.S. National Cancer Institute estimates that 232,340 women will be diagnosed with breast cancer this year.