This blog will cover topics of interest that affect our community. Unless otherwise stated, the blog articles will be written by Sue Friedman, Executive Director of FORCE.

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Genetic Testing: Finding The Right Specialist Can Make A Difference

July 31, 2008

On a daily basis, we are hearing alarming stories about people having BRCA genetic testing under less-than-ideal situations. Increasingly, people are being offered inappropriate testing and are receiving their test results unaccompanied by proper information about their risk for cancer or their risk-management options. In general, these stories involve individuals who are tested at a physician’s office, when they should be referred to a board-certified genetic counselor or an equally qualified health care provider. These stories highlight the importance of meeting with a properly-trained genetics counselor prior to having genetic testing.

My concern is that non-qualified health care professionals ordering genetic tests will become the norm. Between consumers who are unaware of experts specifically trained in genetics and physicians unequipped with the knowledge about when to refer, people are being denied access to health care experts who are best able to help them make important health care decisions regarding cancer risk and prevention.

The National Comprehensive Cancer Network (NCCN) is a consortium of top cancer experts who develop consensus guidelines for cancer screening, prevention, and treatment. NCCN guidelines outline the criteria for determining if cancer in a family may be hereditary. For people who match the guidelines, the NCCN recommends referral to a genetics professional prior to genetic testing. Therefore genetic counseling is considered standard-of-care for those who have a family cancer pattern suggestive of hereditary cancer. BRCA testing without a full pre-testing counseling session (a typical session usually takes 60 minutes) that includes a three-generation pedigree (if available), a thorough discussion of the benefits and limitations of testing, and a list of risk management options, does not meet standard-of-care recommendations.

Like many other fields in medicine, genetics is rapidly evolving with new discoveries published daily. It is difficult for non-genetics experts to keep up-to-date on the latest information. And, although genetic testing may seem fairly straightforward, certain aspects of the process require specific training in genetics. Most doctor’s offices are not prepared to provide an hour-long appointment with an expert—a standard part of the counseling process.

Genetic counselors help individuals and families make informed decisions about genetic testing. These specially-trained experts provide education regarding genetics and heredity in a way that people can comprehend and use to make the best decisions about their risk. Counselors do not try to persuade people to have or avoid genetic testing; they discuss appropriate cancer screening, risk management, and follow-up care based on the most recent medical literature and individual risk. Because genetic counselors are also familiar with state and federal laws regarding information and discrimination, they can address common concerns about the privacy and confidentiality of personal genetic information.

The following discussions occur in a genetic counseling session prior to genetic testing:

  • Reviewing family history of cancer, including information about family members who never developed cancer
  • Assessing and explaining risk for hereditary cancers and/or the chance to detect a mutation through genetic testing
  • Describing the benefits and limitations of genetic testing
  • Describing available medical management options based on test results
  • Discussing whether a person may benefit from genetic testing
  • Determining which family member is the most appropriate to begin the genetic testing process
  • Assisting with insurance submittals for genetic testing

The following discussions occur in a genetic counseling session when results are received:

  • Interpreting genetic test results and explaining what they mean for individuals and their families
  • Providing referrals to experts for follow-up screening and risk management
  • Providing referrals to support resources and research opportunities (including research on genetic testing, screening, treatment, etc.)

Recently we heard from one young woman who received genetic testing in her doctor’s office. After waiting three months for her results, the woman finally called the office. The nurse told her, “Oh, your test was misfiled as normal by the doctor. The results are positive, and by the way, your risk for breast cancer is 87%.” The young woman was alone in her car at the time. This is not the ideal way to receive this information (nor is this the ideal information). Communicating genetic test results requires skill and knowledge. There is a huge difference between “lifetime risk” and a “likelihood of cancer at that moment.” A young woman in her 20s who has a BRCA mutation has less than a 5% chance that she has cancer at that moment. Certainly she will need to make risk-management decisions, but she should not be pressured into make urgent decisions, (especially given that her results have been available for two months or more). Communicating test results in such a hapless and insensitive manner when someone is unprepared to receive them robs people of credible and empowering information, resources, and a risk-management plan at a time when they most need to hear it.

Another recent case illustrates how problems can occur when inadequately-trained health care providers order testing. A different young woman was ordered a $3,000+ full-sequencing BRCA test by her doctor. However, because her father had a known mutation, the correct test for her would have been single site testing, at a cost of about $400! The woman’s mother said, “When my daughter received her positive results, the doctor didn’t seem to know if they were positive or negative. The doctor apologized for the wait, explaining that she was on the phone trying to get information about the results. I took one look at that analysis and knew the results immediately. I had seen the same positive results for my husband! My daughter needed testing only for BRCA1/2, but instead, they performed the more expensive comprehensive testing!”

Some critics assert that we do not have enough genetics experts in our country to provide services for those who need the information. This argument has been used to justify genetic testing in the primary-care setting. Yet, many of the horror stories that we are hearing of people who have been denied genetic counseling involve large cities where genetic counselors are readily available. And for those who can’t travel or prefer not to travel to see an expert, full genetic counseling with board-certified genetic counselors is available via phone through Informed Medical Decisions, a health care service that offers genetic counseling with board-certified experts.

It is not appropriate for physicians to order a test they don’t thoroughly understand, and then only refer patients if the results return with a mutation. A portion of people who receive genetic testing will have a result known as an “uninformative negative test.” These ambiguous results mean that the patient and/or her family may still be at high risk for cancer. In some cases the ambiguous test is a result of the incorrect test being ordered. If physicians only refer people who test positive for a gene mutation and only after the results are available, they deny the consumer the opportunity to understand what the test may mean prior to ordering the test. Additionally, a portion of people who actually are at high risk for cancer will be told that they are at normal risk because of a misinterpreted test result.

Currently no government agency regulates inappropriate genetic testing or testing without the benefit of genetic counseling. Just because doctors offer genetic testing does not mean they have the special training needed to provide genetic counseling, order the appropriate test and interpret the results correctly. Knowledge is our best protection. Anyone who is interested in learning if the cancer in their family is hereditary or anyone who is offered genetic testing from a physician has the right to insist on a referral to a genetics expert. Most insurance companies will cover the cost of genetic counseling. To find a genetics expert near you, visit the page on finding health care specialists on the FORCE website.

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  1. Healthday says:

    Nice post.Keep up with the good information!

  2. Bravo! We need more advocacy on the state and national levels from the patient population and the organizations representing them on this topic.

    Pre-counseling used to be mandated but I fear a serious backslide in medical ethics and profits are at play here. This testing is expensive and totally inappropriate for many people. Myriad’s new direct to consumer advertising campaign is sadly misguided and will create fear and a frenzy that is completely unnecessary.

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