Biology Reference
In-Depth Information
genetic counselors to provide information about possible progression of the
hearing loss, which may be important in making educational and language
choices. Identification of a gene for nonsyndromic deafness in these chil-
dren would also alleviate any concerns the parents may have about the pos-
sibility of future medical complications associated with syndromic forms of
deafness and eliminate costly testing done to diagnose these complications.
6.3.7 Overview of Case 3
This case demonstrates the issues facing hearing parents with deaf children,
which differ from those facing deaf adults. These parents may be grieving
the loss of their “perfect” child. They may also feel unequipped to care for
a deaf child and overwhelmed by the number and importance of decisions
they must make. Deaf adults have often been deaf their entire lives and
never experienced a loss and therefore likely do not require emotional
support.
This case also demonstrates that hearing couples with young deaf chil-
dren may seek molecular genetic testing for reasons different from an adult
deaf couple (such as the couple in Case 1). In addition to identifying a spe-
cific form of hearing loss and allowing for more accurate genetic counsel-
ing, genetic testing may eliminate the need for some costly, time-consuming
medical evaluations, and provide information about possible progression of
the hearing loss.
7. Summary
Genetic counseling is the process of providing information to families about
a genetic condition such as deafness in an atmosphere that is non-directive,
supportive, and sensitive to the special needs of individuals. Professionals
who provide health care and services to deaf and hard of hearing children
and adults are essential to the referral process. Genetic counseling includes
the collection of medical and family history information, a physical exami-
nation by a certified clinical geneticist, referral for genetic diagnostic tests
offered on a research or clinical basis, and referral and follow-up for any
medical conditions that are found to be associated with the deafness.
Families are also provided with detailed information regarding the cause
of the deafness, treatment options and reproductive implications, and are
given support and guidance in making decisions about these options. The
availability of genetic testing for many hereditary forms of deafness has
improved the ability of genetic counselors and clinical geneticists to provide
accurate information to families. However, there are many ethical implica-
tions of this type of testing yet to be explored. These considerations are
particularly important given that some deaf people identify themselves as
being part of a separate cultural group based on their deafness.
