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|Marce Edwards |
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When the MultiCare Genomics Institute orders a genetic test, the blood draw is performed locally at Laboratories Northwest.
DNA testing Q&A: Medical diagnosis vs. genetic entertainment
DNA testing can be a powerful diagnostic tool, if used in a controlled and regulated medical setting with plenty of support for people who are tested.
But that’s not exactly what you get with some at-home DNA test kits.
The FDA is concerned that a false positive or false negative on the unregulated tests could lead to serious health consequences for patients.
For example, a false positive result could lead a person to opt for preventive surgery they don’t need. A false negative result could lead to ignored symptoms and the failure to recognize that actual risk may exist.
What’s the difference between DNA testing through 23andMe or through medical facilities like the MultiCare Genomics Institute?
23andMe is performing unregulated genetic testing. We don’t do that. Health care is a regulated industry, and diagnostic testing is a regulated industry. I’m neither for nor against 23andMe. What they’re doing has some value but is a little on the edge.
Much of what they’re doing is unregulated and unvalidated testing, and they have been warned previously by the FDA about this.
But it’s a challenge – genetic testing is so new and regulation needs to catch up. We have 21,000 genes, and new tests are being developed all the time. 23andMe is just pushing the limits a little bit, and now they’re being reined in.
I think we can learn from 23andMe. I think they need to learn from the rest of us, too. They don’t have all the answers, and they’re not always right about how genomic testing should be rolled out to the public.
What do you find disagreeable about their approach?
They advocate the pre-symptomatic testing of healthy children. I disagree with that, the American College of Medical Genetics disagrees with that, and I think the majority of Americans would disagree with that.
Do you want your 5-year-old daughter to know she’s a high risk of breast cancer in 30 years?
Do you want your 7-year-old son to know that he has an increased risk of Alzheimer’s Disease?
A lot of people derisively call what they do entertainment genetics or recreational genetics. That’s overstating it the other way. They’ve made genetic testing widely available but without any sense of the consequences of doing so.
What are those consequences?
Well, for example, if you get a false positive result for a high risk of breast cancer, then you may choose to have a prophylactic bilateral mastectomy. Oops, you didn’t need to do that. Well that’s not good enough.
MultiCare uses accredited labs with a proven track record of proven results. We offer a blood testing that looks at the BRCA1 and BRCA2 genes, and look for mutations or changes on those genes that predispose women and men to developing breast cancer. Most of our patients meet with a physician and a genetic counselor to discuss the pros and cons of testing, and learn what questions the test can answer and what questions it can’t, and then review the results after testing is completed.
MultiCare can also help people find out whether their insurance covers any portion of the test. (To learn more about the BRCA test, call 253-403-7397.)
What 23andMe offers seems to be a test for curious people, not a diagnostic test for sick people. What are your thoughts on this sort of genetic testing?
It would be inappropriate to use 23andMe as a diagnostic test. At MultiCare, we use targeted genetic testing in an appropriate lab, with an appropriate interpretation, and appropriate intervention based on the results of testing. We have programs to do intense genome-wide diagnostic testing, but we do it with direct patient contact, with visits to the genomics clinic, and with significant medical oversight.
What kind of support is available for people who might receive concerning news?
23andMe requires no health care provider to be involved, and there’s no genetic counseling associated with their testing. MultiCare employs four genetic counselors – two in Maternal Fetal Medicine and two in pediatric and adult care, as well as two medical genetics physicians. Genetic counselors are the prime health care providers who can help individuals deal with the consideration of comprehensive genomic testing.
Do you see any value in wellness genomics testing?
We’re trying to launch a wellness genomics program at MultiCare, where we do proactive genomics testing so that we can tailor health care for adults. But we’re trying to do it in an intelligent, medically appropriate manner. We’re only going to test those genes for findings that, if we find something, will make a difference to the patient’s current or future care, and improve their health maintenance and surveillance.
What questions should a person ask when considering a genetic test?
It depends on why you’re doing the test. If it’s to investigate a disorder, work with your physicians. If it’s for proactive wellness, know what you’re doing and the limitations of testing.
What do you tell people who ask whether they should do a 23andMe test?
It’s totally up to you – I won’t say do it or don’t do it. Just know that it’s incomplete and largely unvalidated testing and should not be taken as the last word in determining your genetic risk for any given medical disorder. If you understand that, then enjoy the experience of learning more about your genetics and being proactive in your overall health care.
Like any new technology, it’s knowing what it can offer, what it can’t offer, and using it appropriately.
Posted on Nov 26, 2013 in