If whole-genome sequencing ever becomes a common part of treating patients, as is expected by many, some tricky ethical and privacy-related problems may arise, most notably questions about what should be done about incidental findings and malevolent things doctors find in the genome that have no treatment.
At Washington University in St. Louis this week, at a global center of genomic medicine, a few experts met in a panel discussion to sift around a bit through the morass of ethical questions whole-genome sequencing might stir up when it does hit the clinic.
Northern Public Radio captured a bit of the banter, including a lively discussion between panelists Laura Jean Bierut from WUSTL and Lanie Freidman Ross of the University of Chicago on whether and in what cases certain results should be returned to patients.
Bierut supports returning results concerning mutations related to five dozen or so genes that are strongly linked to disease, but Ross says the term "high risk" is too vague when it comes to many genetic variants.
In other words, should doctors tell the patients about their potentially disease-causing mutations?
“When we look in low-risk families, it turns out some of them have those genes, and may never go on to develop the health problem. So we’re now creating, in a sense, patients-in-waiting, people who are waiting … for the rock to fall, and the rock may never fall. And so we’re creating a lot of anxiety," Ross says.
Bierut thinks that there is already loads of information about some of these genes, and because the risk related to many variants is quite high it justifies alerting a patient about their status.
A child undergoes WGS, for example, and is found to have a BRCA mutation.
“It’s true that the child will not develop the disease for a long time,” Bierut says. “But you have a parent standing there in front of you. And you have information about that parent. And it is this balance about what do you do.”
Bierut and Ross also take differing views of direct-to-consumer genetic testing, which Bierut sees as the inevitable "wave of the future" because it empowers individuals, who should have free access to their genetic information, and because genetics is already entering clinical care, and DTC is just part of that revolution in medicine.
Ross is highly skeptical of the value of these tests, which she says are not yet ready to meet that evidence-based standards that healthcare requires.
She points out that when NIH Director Francis Collins tried out three different DTC firms he got a range of differing results, such as a prediction of increased risk for prostate cancer from one firm and of decreased risk for the same disease from another.
“And so why does he get different information? Is one company better than the other?" she asks.
Ross also points out that these companies are not taking into account critical environmental and behavioral information when they assess genetic risk, and cannot account for the fact that prostate cancer is not caused by one gene.
Broadly, Bierut and Ross represent differing ends of a nuanced debate that is going on about the use of genomic information in the clinic.
“We are undergoing a genetic revolution, and I see genetics entering medicine. Our goal should be to see how do we have it enter medicine safely, efficiently, effectively," Bierut says.
Ross, though, says there is still a lot that needs to be discovered before genetic risk information will be widely useful to patients because disease risk is ambiguous and to give a patient a direct link between one gene and one disease "is just wrong."