NEW YORK (GenomeWeb News) – With genetic tests on the rise, genetic counselors may have their hands full helping individuals understand these tests and their ramifications.
In the latest edition of the quarterly journal Genetic Testing, a group of researchers from Georgetown University, Mount Sinai Medical Center in New York, and the Good Samaritan Hospital Medical Center in West Islip, NY, outline one possible approach for meeting the demand for genetic counseling and bringing it to isolated areas: genetic counseling over the phone.
In the paper, the team also describes the design of its ongoing, randomized clinical trial to compare telephone genetic counseling with in-person counseling for at-risk women tested for the BRCA1 and BRCA2 breast cancer risk mutations.
“When, or if, we establish that [telephone genetic counseling] is effective, it will be a useful tool to make genetic counseling more accessible to rural people,” Beth Peshkin, a senior genetic councilor at Georgetown University’s Lombardi Comprehensive Cancer Center, told GenomeWeb Daily News.
Genetic counselors can help clear the sometimes muddy waters of genetic testing, providing insights into a test’s benefits, risks, and implications before an individual takes the test. The counselors also help patients interpret the results and consider management steps, if necessary. Finally, they may help individuals deal with their perception of risk, something that may be necessary whether the outcome is positive or negative, Peshkin emphasized, since the test “may change long-held beliefs about disease risk.”
While there is currently no requirement for companies offering genetic testing services to provide counseling, Peshkin said, the number of genetic tests available is on the rise as companies market genetic tests online and use direct-to-consumer advertising to entice new customers. But, the authors note, genetic specialists are often in large urban areas and/or near university medical centers, making them inaccessible to much of the US population.
“In anticipation of this increased demand, it is imperative that alternatives to traditional genetic susceptibility counseling are developed and empirically evaluated,” the authors wrote. “[A] logical fist step toward developing effective alternatives to clinic-based genetic counseling is to develop interventions that parallel the traditional model while extending its reach and deliverability.”
Consequently, Peshkin and her colleagues are keen to determine the effectiveness of alternative counseling methods such as telephone genetic counseling. They are currently enrolling subjects in a randomized clinical trial comparing telephone genetic counseling — which combines over-the-phone discussions with visual aids that are mailed to individuals — with standard, in-person counseling.
They hope to enroll 600 to 800 women considered at high risk — with at least a ten percent chance — of carrying the BRCA1/2 breast cancer risk mutation based on their family history. The subjects are either self-referred or physician-referred from the Lombardi Cancer Center at Georgetown University, the Dana-Farber/Harvard Cancer Center, Mount Sinai, or Vermont University’s Vermont Cancer Center.
The group will evaluate several different outcomes including test-takers’ knowledge about the genetic test, their quality of life, any test-related distress they experienced, the management behavior they selected based on their test result, and so on. The trial began in late 2004 and by the time it wraps up in late 2009 or early 2010, the researchers hope to have enough information to determine how telephone genetic counseling stacks up against in-person counseling.
In the meantime, Peshkin and other genetic counselors are also keeping an eye on the new genetic tests on the horizon. That’s because as genetic research continues unveiling new disease markers, genetic counselors will likely be at least one source of information for those struggling to understand the plethora of tests and which, if any, are appropriate.
For her part, Peshkin emphasizes the importance of critically evaluating genetic data and, whenever possible, focusing on genetic tests that are based on replicated, published data. Otherwise, the tests may be misleading or impossible to interpret, even for experts. “I think a lot of the new genetic makers we read about are interesting or promising, but we don’t have the data to interpret these genetic tests.” Peshkin said.