What's Ahead for BRCA Genetic Testing and Counseling?

Lauren M. Green @OncNurseEditor
Published: Saturday, Mar 08, 2014

Ellen T. Matloff, MS, CGC

Ellen T. Matloff, MS, CGC

The US Supreme Court’s landmark decision last June, mandating that an individual’s genes cannot be patented, transformed the genetic testing landscape and opened the marketplace to a host of new and complicated testing options. That decision—alongside actress Angelina Jolie’s highly publicized choice to undergo a prophylactic double mastectomy due to her family history and her own BRCA mutation status—have shined a spotlight on hereditary cancer risk, presenting both opportunities and challenges for today’s oncology practitioner.

“It’s a very exciting time, but the complexity of the field has probably increased 20-fold since last June,” said Ellen T. Matloff, MS, CGC, who will discuss the new realities for managing at-risk patients during Saturday morning’s session on Quality of Life for the Doctor and Patient. Matloff, who directs the Genetic Counseling Program at the Yale Cancer Center in New Haven, Connecticut, was one of the victorious plaintiffs in the Supreme Court case, arguing against the patenting of BRCA 1 and 2 genes by Myriad Genetics.

“Things are really ramping up. Rather than one-stop shopping, there are all sorts of different offerings, different laboratories, different genes involved, and interpretations are much more complex,” said Matloff, adding that testing is being of fered at costs 50% of what Myriad Genetics was initially charging.

Issues such as turnaround time and customer service, as well as testing quality and comprehensiveness across different laboratories, are being examined. “We need to know what the pros and the cons of this new system are,” said Matloff, “and there are both pros and cons.”

The Importance of Counseling

This expanded genetic testing arena, coupled with a steady stream of new research findings on hereditary cancer risk, poses a challenge for clinicians trying to fit yet one more component into the patient consultation. It also has elevated the already important role of genetic counseling.

There are a variety of guidelines providers can turn to, such as those issued by the NCCN, and, more recently, by ASCO, as well as the US Preventive Services Task Force update to its 2005 guidelines. But, noted Matloff, “I don’t think the average clinician is constantly referring back to guidelines when they interact with patients. They scan the guidelines and use them as a marker.”

Table 1. Survey of Cancer Genetic Specialists1

Mutationa 1998b 2012 P value
Would you undergo testing if you had a 50% risk of carrying a mutation? No 8.1% (n = 13)
Yes 84.5% (n = 136)
No 0.9% (n = 2)
Yes 99.1% (n = 214)
Would you have your breasts removed if you tested positive for a mutation at age 35? No 66% (n = 105)
Yes 24.5% (n = 39)
No 41.7% (n = 90)
Yes 58.3% (n = 126)
HNPCCc: If you tested positive for a deleterious mutation at age 35, would you:
Undergo a prophylactic colectomy? No 61.3% (n = 95)
Yes 17.4% (n = 27)
No 92.6% (n = 200)
Yes 7.4% (n = 16)
Have your uterus removed prophylactically? No 28.8% (n = 42)
Yes 54.1% (n = 79)
No 20.4% (n = 44)
Yes 79.6% (n = 172)
Have your ovaries removed prophylactically? No 29.7% (n = 43)
Yes 52.4% (n = 76)
No 22.2% (n = 48)
Yes 77.8% (n = 168)

aMale respondents were asked to answer as they would for a close female relative.
bNumbers do not add up to 100% because not all participants answered all questions.
cHereditory non-polyposis colorectal cancer.

Table 2. Perceptions Regarding Insurance/Confidentiality

    Cancer Genetic Counselors (N=216) Non-Genetics Physicians (N=1097)
If you chose to undergo genetic testing for a hereditary cancer syndrome, would you bill the charges to your insurance company? No

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