The committee believes that education and counseling are essential components of any genetic testing (see Chapter 4). In order to develop appropriate reimbursement for genetic testing and counseling services, the committee recommends that greater efforts be made for joint undertakings among private and public health plans and geneticists to develop guidelines for the appropriate reimbursement of genetics services. Such guidelines should address the issue of how each new genetic test should be assessed for its sensitivity and specificity in light of the availability of effective treatment, the consequences of the test, the evaluation of pilot study results, and when new tests are appropriate for use in routine clinical practice.

The insurance concept of what is reimbursable (so-called medically necessary) should be defined to include appropriate genetic testing and related education and counseling, and these genetics services be reimbursed under health insurance plans. Medical necessity can often be established by a family history of the disorder. In pregnancy, medical necessity should be considered established for cytogenetic testing in pregnancies in women of advanced maternal age or those considered at high risk based on other methods of assessing risk. The committee also recommends that newborn screening and appropriate MSAFP screening in pregnant women of any age be considered within the insurance definition of what is medically appropriate, and be reimbursed under health insurance plans.

To facilitate such coverage and reimbursement for genetic testing, education, and counseling, the committee recommends the establishment and updating of appropriate and specific CPT-4 diagnostic codes for these genetic testing and counseling services. Now that the ACMG has become part of the ABMS of the AMA, the ACMG should take the lead in working with the AMA committee responsible for CPT-4 codes.

Finally, the committee recommends that health insurance reform proposals be evaluated to determine whether they adequately protect genetic information and persons with genetic disorders from discrimination and other potential social, legal, and ethical harms related to health insurance and the use of genetic information (see Chapters 7 and 8).



The Committee on Assessing Genetic Risks had the benefit of the advice of Marilyn Field, Study Director of the Institute of Medicine (IOM) Committee on Employer Based Benefit Plans in preparing its analysis of issues of health insurance and its impact on access to genetic testing and counseling services.


The full report of the ELSI Task Force on Insurance and Genetic Testing covers many of these issues in more detail and was released in May 1993 (ELSI Insurance Task Force, 1993). Committee staff followed the work of the ELSI Task Force so that the IOM committee had the benefit of this work in its own deliberations.


For additional information, see the recent IOM report Employment and Health Benefits: A Connection at Risk (Fields and Shapiro, 1993).

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