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    Wednesday, July 31, 2002

    Genetic Screening: Insurance companies are starting to cover genetic screening for “certain conditions”. The article hails Aetna as a leader in the movement, but their website makes it clear that they are rather restrictive in the cases they’ll cover. Their policiy is basically the same as that described by the other insurance companies in the article. For example, genetic testing for colon cancer is only covered for hereditary nonpolyposis cancer of the colon. This is a rare cause of colon cancer, and not like the more common colon cancers that arise from polyps. (Which can also be hereditary). Aetna says it will cover genetic testing for nonpolypsosis cancer of the colon if certain criteria are met. It is not offering to pay for genetic testing in everyone who has a family member with colon cancer. Even in cases of hereditary nonpolyposis cancer of the colon, the utility of genetic screening to guide colonoscopy is questionable:

    Expert panels convened by the AHCPR7 and the Cancer Genetics Studies Consortium (CGSC)29 recommended that persons who are members of a family that fits the clinical criteria for hereditary nonpolyposis colorectal cancer undergo colonoscopy at 20 to 25 years of age and every one to three years thereafter. In addition, these patients and their family members should be referred for genetic counseling. Germline testing for mismatch repair gene mutations can be considered, but the predictive value of such testing is only 50 to 80 percent. Therefore, regardless of the outcome of such testing, colonoscopy should be performed.

    The surgeon described in the article, who I am sure has very good intentions, is a little too gung-ho in his treatment methods:

    Dr. Frederick Slezak, an Akron area surgeon who specializes in colon and rectal problems, has spent hours writing letters or calling insurers to persuade them to cover a genetic test for patients already diagnosed with colon cancer.

    Female patients whose colon cancer is caused by a specific inherited genetic mutation are at higher risk for endometrial cancer, so their uteri should be removed as a preventive measure he said.


    His suggestion that a woman with the mutation for colon cancer have a hysterectomy to prevent uterine cancer harkens back to the days of old when surgeons did hysterectomies for the slightest of reasons. Their rationale was that none of those organs were needed past the childbearing years and that they would some day develop cancer (uterine, ovarian, cervical), so best be rid of them.The genetic mutation in question doesn’t condemn a woman to uterine cancer, it only increases her risk. A better approach would be to counsel her about the signs and symptoms of uterine cancer (bleeding after menopause) and encourage her to get yearly pelvic exams to monitor her uterus size. These days ultrasounds are sensitive enough to measure the lining of the uterus and can be used to monitor the potential for uterine cancer development. Proophylactic hysterectomy isn’t a necessity.

    The same is true for breast and ovarian cancer screening using genetic tests:

    A woman with certain known mutations in BRCA1 has a lifetime risk of 56 to 85 percent for breast cancer and an increased risk of ovarian cancer.

    The gene increases the risk of developing breast or ovarian cancer. It does not pre-ordain a woman to develop them. The question becomes “what do you do with this information once you have it?” Does a woman with the gene for breast cancer have a prophylactic mastectomy? (Sometimes even then, breast cancer shows up later). Does she take tamoxifen to prevent future cancer? (We don’t know the consequences of taking tamoxifen for many years) Does she get early and frequent mammograms? (She may have more biopsies for benign breast lumps and the early diagnosis may not make a difference in long term survival anyways). Does she have her ovaries removed? (She may still develop ovarian cancer) Does she get yearly ultrasounds and blood tests to screen for ovarian cancer? (Again, she may undergo procedures for benign cysts and early detection may not make a difference in survival.) Does she spend a lifetime worrying about the significance of her genetic test results? Probably. Consider the experience of Sweden in testing for a genetic predisposition to lung disease:

    However, the results of a failed newborn screening program for alpha1-antitrypsin deficiency in Sweden point to more complex reasons for resistance to genetic screening and testing. This deficiency is an autosomal recessive genetic condition that predisposes to adult, early-onset emphysema particularly in the presence of environmental factors such as cigarette smoking. Avoidance of cigarette smoke and smoky or dusty environments would presumably be a beneficial action if persons with this genetic predisposition could be identified.

    Using this hypothesis, an experimental newborn screening program was established in Sweden and involved approximately 200,000 newborns. The program was prematurely cancelled after severe, negative psychologic consequences (that were still evident at a five- to seven-year follow-up evaluation) were identified in more than one half of the families. Families reported viewing affected children as "different" and their anxiety about the disease led many of the parents to increase their cigarette smoking rather than decrease it as recommended.


    And that was a program that only required smoking cessation to make a difference.

    There is also the very real concern of what use third parties will make of genetic test results:

    Most people who work for large companies that automatically extend health-insurance coverage are most likely safe from discrimination, Mehlman said.

    But unless new laws are enacted, he said, people who are covered by an individual health insurance plan, as well as those who work for small companies, might want to consider paying for genetic tests out-of-pocket when possible.

    ``The law is full of gaps and loopholes,'' he said.

    To address these concerns, Aetna is publicly supporting the creation of a federal law that would prohibit insurers from requiring genetic testing for coverage, as well as ban insurers from disclosing tests results without a patient's approval.


    Even paying for the test out of pocket won’t keep the test results out of your medical chart. Life insurance companies routinely request medical records, with the patient’s consent, to assess risk and eligibility. But even though they consent to the release of information, I’m always amazed at the number of people who are upset because a policy was denied or a rate was increased because of the information in the medical record. Imagine what life insurance companies would do with genetic results. Would they insure anyone with a positive test? Would they force people to have the tests like they do now for HIV? As for health insurance companies, if you test positive for a cancer gene at thirty and then develop cancer at sixty, what are the chances that they’ll deny coverage of the medical care for the cancer because it’s a pre-existing condition? Believe me, the chances are pretty good. The original insurance company may not discriminate against you, but people rarely keep the same health insurance company for thirty years. A new insurance company could very definitely use the information to discriminate in coverage.
     

    posted by Sydney on 7/31/2002 09:38:00 AM 0 comments

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