2002 Annual Meeting on Successful Statewide
Roundtable Topic: Should recent discoveries about Connexin 26 impact EHDI programs?
Items discussed and comments are summarized below:
Should all infants with a confirmed hearing loss be tested for connexin 26 mutations? The general consensus of the group was that all children with a permanent hearing loss should be referred to a clinical geneticist for an evaluation that would include offering connexin 26 testing. This testing should be ordered by the clinical geneticist, and genetic counseling should be provided to the family both before and after testing. We discussed concerns that connexin 26 may be used by some providers to rule-out syndromic complications, but there is no literature to support this; thus, connexin 26 testing should not be a substitute for a full evaluation by a clinical geneticist. In the genetic counseling session, it is important to make sure the family understands that a negative connexin 26 test does not mean that the hearing loss is not genetic.
Concerns about education of providers: The concern is on two fronts: first, education of clinical geneticist regarding the proper protocol for the genetic evaluation of infants with hearing loss (such as in ACMG's recent guidelines); and second, the education of primary care physicians and ENTs regarding the importance of referring children with hearing loss to clinical geneticists.
Concerns about the impact of genetic test results on insurance coverage: Some children with specific diagnoses have had trouble getting insurance coverage as adults. Concern was raised that connexin 26 mutations may be used by insurance companies to deny coverage. It was pointed out that some states have protection against the use of genetic information on insurance coverage. Hawaii is one of the states that offers protection. We discussed the possibility of us all moving to Hawaii.
Ethical issues related to genetic testing: First, issues related to the discovery of non-paternity. Means to address this issue may include addressing the issue in the informed consent process, and only testing parents if a novel mutation is discovered in the child and family studies are needed to determine if it is a causal mutation.
Second, the use of connexin 26 testing in prenatal diagnosis. Should it be allowed? It was pointed out that different genetic testing laboratories have different policies about accepting prenatal samples for genetic testing. Some will accept prenatal samples for testing and some will not. The group discussed whether or not it is the role of the laboratory, or even physicians, to dictate the use of prenatal genetic tests. We discussed the possible use of these tests by deaf couples who might prefer a deaf child. It was pointed out that the Army medical services cover prenatal diagnosis, but not genetic counseling or terminations. The implications of this policy were discussed.
Third, possible implications on carriers. We discussed the current research studies that indicated reduced hair cell function in connexin 26 carriers. Based on these findings, we discussed the hypothesis that carriers may be at increased risk of noise-induced hearing loss. The implications of this possibility were discussed, including insurance issues, job restrictions, and noise as child abuse. Given the amount of noise in the environment of children and teens (eg., children's restaurants like Chuck E. Cheeses and concerts), we discussed the overall need for better public education about noise and noise-induced hearing loss.
Given these ethical issues, concern was raised about physicians who order genetic testing without genetic counseling by certified counselors and without true informed consent. Informed consent should include the possible exposure of non-paternity or adoption, possible implications on insurance coverage, and effects of information on other family members.