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.
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.”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.”
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.
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?
5.1% (n = 11) 94.9% (n = 205)
13.2% (n = 145) 86.8% (n = 952)
If you chose to undergo genetic testing for a hereditary cancer syndrome, would you use an alias?
96.8% (n = 209)
3.2% (n = 7)
86.8% (n = 952)
13.2% (n = 145)
If you chose to undergo genetic testing for a hereditary cancer syndrome, would you purchase life insurance before undergoing test?
3.4% (n = 29)
86.6% (n = 187
31.4% (n = 344)
68.6% (n = 753)
Setting more realistic goals for providers would help a lot, she continued. “Back in the 90s, as the Human Genome Project was unfolding, people were saying, every single clinician— whether a physician or a nurse—is going to be doing their own genetic testing in their own office, and they’re going to be doing it for hundreds of different genes. We now realize that this was an unattainable goal for the average clinician who has 14 minutes to spend with a patient.”
“Part of what we need to do is change the goal. We no longer think that clinicians should or could be responsible for being certified genetic counselors. What we hope they will be able to do is par tner with us to determine which of their patients requires a referral to a certified genetic counselor. If they could help in that way, it would be absolutely fantastic.”Physicians have an important role to play in educating patients who are candidates for genetic testing due to family history or other factors and helping these patients to understand the importance of knowing their risk.
A national poll by the University of Utah’s Huntsman Cancer Institute in Salt Lake City found that more than one-third (34%) of adults surveyed would not seek genetic testing to predict their chance of developing a hereditary cancer, even if cost was not an issue. Respondents attributed their reluctance to worry over insurability and the possible impact on opportunities for employment, despite the fact that current laws prohibit such discrimination.
The survey also found that just 35% of respondents would be extremely or very likely to seek aggressive prophylactic or preventive treatment if they had a family history of cancer and testing indicated a predisposition.
Matloff has explored these important issues from the perspective of genetic specialists—experts, she said, “who really know what the risks are and the benefits.”
She was among the researchers on the original specialist survey of attitudes about genetic testing, prophylaxis, and insurance conducted in 1998, and led the 2012 follow-up survey of 216 active members of the National Society of Genetic Counselors’ Special Interest Group in Cancer.1 Matloff’s research is among that featured in this year’s MBCC poster exhibition.
She explained that the original survey was taken when cancer genetic testing and counseling was in its infancy. “We had little or no dat a to tell us what would be the efficacy of prophylactic surgery, surveillance, or chemoprevention for carriers.”
Much has changed since the 1998 survey—notably, the fact that now 58.3% of the specialists surveyed said that they would opt for bilateral prophylactic mastectomy if they tested positive for a deleterious BRCA mutation at age 35. When that question was asked in 1998, only approximately 25% said that they would choose to have their breasts removed if they were found to be BRCA mutation carriers (Table 1).
The researchers also looked at how non-genetics physicians’ attitudes compare with those of genetic specialists and found that the latter were more likely to bill genetic testing to insurance, less likely to use an alias, and more likely to purchase life insurance before undergoing testing (Table 2).
Matloff and colleagues noted that overall, their study results suggest that cancer genetic specialists’ views of what they would do when faced with the complex decisions that surround cancer genetic testing likely stem from their extensive training and experience in the field and familiarity with current guidelines.
“We found that amongst experts, almost everyone would have the testing, and they would bill their insurance company,” said Matloff.
Thus, those in the know understand that testing is safe, stressed Matloff:
“I think that’s a really important message to repeat and repeat to our patients, because patients of ten say to providers, ‘what would you do if it was your daughter, what would you do if it was your wife?’ And, this is what they would do.”
Matloff ET, Bonadies DC, Moyer A, Brierley KL. Changes in specialists’ perspectives on cancer genetic testing, prophylactic surgery and insurance discrimination: then and now [published online ahead of print July 13, 2013]. J Genet Couns.