Biology Reference
In-Depth Information
has been greatly assisted by the availability of genetic tests for common
forms of genetic deafness. In the future, there will be a decreasing need for
genetic counselors to rely on empirical risks when providing information to
families.
5. The Future is Now: Genetics Technology and
the Genetic Counseling Process
As described in several of the preceding chapters, advances in the identifi-
cation and characterization of genes for hearing loss are occurring very
rapidly. These technologies are beginning to have a profound effect on
the genetic counseling process. Because these advances are relatively new,
many genetic counselors are only beginning to learn about the availability
of clinical diagnostic tests and research-based tests available for hearing
loss. For some conditions, carrier testing and prenatal diagnosis is now pos-
sible and is being offered by some programs.
It is important that geneticists, as well as other professionals involved in
the health care of individuals with hearing loss, consider the ethical impli-
cations associated with the utilization of genetics technology. As pointed
out by Nance (1993), the genetics/medical community, deaf and hard-
of-hearing people, and parents of young deaf children may have widely
divergent views regarding the appropriate use of genetics technology. While
there are many benefits of the availability of genetic testing to diagnose
both syndromic and nonsyndromic forms of deafness, there are many
ethically challenging situations that can arise. At what point should the
decision be made to offer genetic testing on a clinical basis rather than a
research basis? At what point should carrier testing and prenatal diagnosis
be offered? Should hearing parents at risk for a deaf child be given the
option of prenatal diagnosis and termination of the pregnancy? Should
these parents first be given detailed information about the effects (both
negative and positive) of deafness upon the lives of children? Should deaf
parents who desire to have deaf children be given this option through
genetic testing, prenatal diagnosis, and selective termination of a hearing
fetus? Although this situation may only rarely arise, it is within the realm
of possibilities. Now that it has become evident that connexin 26 mutations
are very common causes of congenital deafness, deaf people may seek
testing for the purposes of avoiding having deaf children or, alternatively,
improving their chances of having deaf children. Either of these goals could
be accomplished simply by the deliberate choice of a marriage partner
without or with mutations in the connexin 26 gene. How do we best encour-
age an open dialogue between the medical/genetics community and deaf
and hearing consumers regarding these issues? Should we encourage this
type of dialogue at all? These and other issues need to be considered by
