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Call for Genetic Testing for All Women Over 30 Raises Ethical, Practical Concerns. Then, There's the Cost. An AJMC Exclusive

Mary K. Caffrey
The call for all women age 30 and older to have genetic testing for the mutations that cause breast and ovarian cancer raises a host of ethical and practical concerns, to say nothing of the cost, which could run in the billions of dollars in the United States, according to a physician for a major insurer who has implemented a genetic counseling policy.
The call for all women age 30 and older to have genetic testing for the mutations that cause breast and ovarian cancer raises a host of ethical and practical concerns, to say nothing of the cost, which could run in the billions of dollars in the United States, according to a physician for a major insurer who has implemented a genetic counseling policy.

On Monday, the healthcare community heard that Mary-Claire King, PhD, the University of Washington professor of genetics, had simultaneously won the Lasker-Koshland Special Achievement Award for her work with the BRCA1 gene and published an opinion piece in the Journal of the American Medical Association, in which she and her co-authors called for universal genetic testing of all women starting at age 30.

“Critics may object that ‘women aren’t ready for this,’” King told The New York Times in an interview. But there are other questions, which King addresses partially in the JAMA article. Are the tests themselves ready? And, would the healthcare system be ready?

For insight, The American Journal of Managed Care contacted David H. Finley, MD, FACS, national medical officer, Enterprise Affordability and Policy at Cigna. A year ago, the insurer created the first policy requiring genetic counseling ahead of genetic testing, for the purpose of ensuring that both women and their doctors would understand the tests and the options.

Without question, “Women at high risk of the mutation should be tested,” Dr. Finley said. Right now, there are women who need tests who aren’t getting them, and some are getting tests who don’t need them. This is not a problem that universal testing will solve, at least not now, he said.

The challenge is “What is the best way to ensure that women who ought be tested are tested?”

Solutions lie in better deployment of genetic counselors or specially trained advanced practice nurses (APNs) to find at-risk women, or in better training of primary care physicians to ask routine questions during an annual checkup, such as, “Do you have a history of cancer in your family?”

“That way,” Dr. Finley said, “you will reach more women.”

The problem with universal testing, Dr. Finley said, is that while 2 percent of the population will end up with a BRCA1 or BRCA2 mutation, approximately 4 percent will end up with a “variant of unknown significance,” which will mean the woman may or may not face a risk of cancer. If the woman has no family history of cancer and her doctor can give her no sense of her odds of getting cancer, “That’s a real bad place to be,” Dr. Finley said.

King’s JAMA paper calls for not reporting such results, but Dr. Finley said that’s not practical or even legal in most jurisdictions.

In the Times interview, King asserts that recent advances make universal screening more practical and scientifically justified than it might have been in years past; women no longer need to be “protected” from genetic testing. But in the discussion with AJMC, Dr. Finley agreed it is right to ask whether it is ethical to deploy a population-based testing policy that would inevitably give millions of women imperfect information upon which to make critical decisions about their health. If testing occurs in their prime child-bearing years, decisions could impact whether they have more children, or whether they have children at all.

A year ago, Cigna announced a policy that genetic counseling by a board-certified counselor should occur before genetic testing. Right now, Dr. Finley said, at Cigna testing for BRCA1 and BRCA2 genetic mutations occurs among women with known risk factors, based on criteria outlined by the National Comprehensive Cancer Network. Guidelines from other associations vary slightly – those of the American College of Obstetrics and Gynecology are broader -- but no medical organization calls for universal testing, or anything close to it.

Dr. Finley said there aren’t enough certified genetic counselors, APNs with genetics training or physicians who are genetic specialists to handle all the counseling that would be needed if all women age 30 and older were tested and then needed genetic counseling.

Cigna’s policy of requiring counseling before testing was strongly endorsed during the AJMC panel discussion in September 2013, which featured leading genetic counselors and Otis W. Brawley, MD, FACP, the chief medical officer of the American Cancer Society, who said he had personally treated women who had had prophylactic breast removal after a genetic test showed a VUS, and the surgery was later shown to be unnecessary.

King’s call for universal testing for women over 30 would, in theory, mean testing of some 85 million American women, based on U.S. Census Bureau estimates of the female population up to age 80 (the age at which many similar screenings end).

The costs of universal testing could be quite high in the short term. Here are some key numbers:

  • Population. If all women between ages 30 and 80 were tested, the total would exceed 85 million, based on 2013 estimates from the U.S. Census Bureau.
  • Testing Costs. Dr. Finley said while testing costs vary, the average is approximately $2,000 per test. If all women were tested the total testing cost would be $170 billion.
  • Downstream Costs. Setting aside costs for women who are found to have a BRCA mutation (it would be desirable to catch those), there will be 4 percent of women who have variants of unknown significance, or VUS.  For those who choose surgery to eliminate organs that could cause cancer, Dr. Finley estimates the cost at $50,000 per patient.
  • Surgical Costs. For VUS patients only, assuming $50,000 and half of the VUS population, or 1.7 million patients: $85 billion.
  • Screening Costs. Some VUS patients will choose to have an annual MRI instead of surgery. For half the VUS population, or 1.7 million patients, at $1,000 per MRI each year for 30 years: $51 billion.
 

References

Lasker Award Winner Calls for More Genetic Testing in Cancers

Genetic Testing Should Come with Counseling

Genetic Testing and Counseling Program

What to Expect When Meeting With A Genetic Counselor

 
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