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 Yale-New Haven Hospital, New Haven, Connecticut, USA HealthLINK: Cancer

December 10, 1999

News this month
Confidentiality and cancer genetic testing

Fear of genetic discrimination is one of the most common reasons people avoid testing that could predict hereditary cancer, according to a recent survey of genetic counselors.

For the study, conducted by the Yale Cancer Center’s Genetic Counseling Program, 296 active members of the National Society of Genetic Counselors Cancer Special Interest Group (NSGC Cancer-SIG) were asked about their views on genetic testing and what steps they would take to improve confidentiality.

The written survey was authored by the center’s program director Ellen T. Matloff, and colleagues Karina L. Brierley and Heather L. Shappell. It was distributed to NSGC members throughout the U.S. and in several foreign countries. Results were presented at the annual meeting of the American Society of Human Genetics in San Francisco this past October.

To avoid discrimination, most genetic counselors said they would pursue genetic testing…[but] 68% said they would not bill genetic testing charges to their health insurance company.

Making the testing process safer
Researchers asked what safeguards the counselors would use to protect themselves against genetic discrimination if they themselves underwent testing. The vast majority said they would pursue genetic testing for a BRCA (breast cancer) or HNPCC (colon cancer) mutation (85% and 91%) if they were at 50 percent risk to carry such a mutation. However, 68 percent said they would not bill genetic testing charges to their health insurance company and 26 percent would use an alias for fear of discrimination.

Eighty-two percent of counselors would share the information with their physicians, although many would not want their genetic status documented in their medical records. Almost all (98%) would share their results with family members, while only 30 percent would discuss the results with colleagues. Fifty-seven percent of counselors would seek professional psychological support to help them cope with the results of their testing.

Enthusiasm over the discovery of the gene linked to most cases of hereditary breast cancer was soon tempered by concerns regarding privacy and patient confidentiality.

The first cancer gene is discovered
The discovery of the BRCA1 gene, the gene linked to causing most cases of hereditary breast cancer, was greeted with great enthusiasm in 1994. Women with a strong family history of the disease could find out if they carried the gene, and if so, take steps against breast cancer. Patients at risk could be monitored closely for early signs of cancer. If cancer did occur, (and there is no guarantee that cancer would ever occur), it could hopefully be detected early and treated successfully.

Enthusiasm was soon tempered by concerns regarding privacy and patient confidentiality. These fears quickly led to federal and state legislation designed to help protect consumers of genetic services from discrimination by insurance companies.

Understanding who is at risk
Familial cancers account for only 5 percent of the nearly 1.3 million cases of cancer that will be diagnosed this year. Those people who might be candidates for cancer genetic testing have at least one of six risk factors that include:

  • Having a relative who had cancer at an unusually early age
  • Multiple family members affected by the same type of cancer
  • People in the family with more than one primary cancer (two breast cancers or one breast and one ovarian)
  • The presence of related cancers: breast and ovarian, or colon and uterine
  • Jewish ancestry
  • Presence of an unusual cancer, such as breast cancer in a man

Looking to the future The researchers hope that safeguards for patient confidentiality continue to improve and recommend concerned patients seek out experienced, full-service cancer genetic testing services that include counseling.


Physician Referral Online

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of Yale-New Haven Hospital.

Physician Referral Online
Using your own criteria, you can request information from a database of 900 area physicians who have registered to participate.

Request an appointment
We would be happy to assist you in scheduling an appointment with a member of the hospital's medical staff. Use the link above or call:

203-688-2000
or toll free
1-888-700-6543
to talk with a referral coordinator.
Ellen Matloff, M.S.

Results echo patient concerns

Cancer genetic testing and patient confidentiality is a hot topic. When we presented our study at the conference, it generated a great deal of interest among the medical professionals. The take-home message from our study was that those closest to the issue, the genetic counselors, still believe the benefits of genetic testing outweigh the risks. But there are real risks, and our study underscores the need for better legislation in this area.

"Genetic counselors still believe the benefits of genetic testing outweigh the risks."

Until this happens, it’s extremely important for patients to choose only highly reputable and experienced cancer genetic testing services. The Cancer Genetic Counseling program at Yale was one of the first of its kind in the country. From the beginning, we were very aware of and sympathetic to the concerns of our patients and have put in place a number of safeguards that protect patients and make them feel more comfortable.

The insurance question
Many of our patients choose not to bill their health insurance company, a fact that was also true among the genetic counselors we polled. It should be noted, however, that there have been no documented cases of discrimination stemming from cancer genetic counseling or testing so far. Those patients most likely to bill their insurance company are those who already have cancer and want to know:

  • for which other cancers they may be at risk;
  • which treatment and risk reduction options to pursue;
  • whether family members might be at risk.
"Colorectal, breast, uterine, ovarian, prostate and melanoma [cancers] have a genetic component that can be passed from one generation to the next."

Types of cancers that can be detected
Certain cancers–including colorectal, breast, uterine, ovarian, prostate and melanoma–have a genetic component that can be passed from one generation to the next. In addition, some cancers seem to run together. For example, a woman found with the BRCA1 or BRCA2 gene is at increased risk for breast and ovarian cancer. A woman with the HNPCC (hereditary nonpolyposis colon cancer gene) is also at increased risk for uterine cancer.

Deciding on testing
Every year, we see more than 200 people in our program. Not everyone who comes to us for a consultation goes on to have genetic testing. First of all, some people learn that a review of their family history by a genetic counselor shows their risk of a familial cancer is not as strong as they believed, and therefore does not warrant genetic testing. Others simply choose not to have the testing done. It’s a very personal decision.

"I can’t emphasize enough how important [psychological and support services] is for our patients."

Acting on the results
Patients who test positive for these cancer genes will receive more frequent screening so that if cancer occurs, it will be detected at its earliest and most treatable stage. Equally important are the psychological and support services we offer. I can’t emphasize enough how important this type of support is for our patients. I think it’s significant that the majority (57%) of genetic counselors we surveyed agreed that they would seek professional counseling to help them cope with the diagnosis. And these are people who have professional counseling skills themselves.

The future of genetic counseling
In time, cancer genetic testing will become more accepted, especially as insurance companies realize that it’s much more cost effective to treat cancer at its earliest possible stage.

It’s important to remember that only a small percentage of all cancer cases are directly related to an inherited genetic mutation. This means the general public must be as vigilant as ever in receiving routine screening for various types of cancers.

Ellen Matloff, MS, is director of the Cancer Genetic Counseling Shared Resource at the Yale Cancer Center.




If you have concerns about cancer and your family and would like information about cancer genetic testing at the Yale Cancer Center, call the Cancer Genetic Counseling program at (203) 785-5938.
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