Biology Reference
In-Depth Information
For the culturally deaf, most of whom have congenital, severe to profound
sensorineural deafness, their identities have been shaped by their use of a
common language (American Sign Language in the United States) and the
ways in which they have been educated and socialized. Many of these deaf
individuals have been educated together in residential or mainstream pro-
grams for the deaf. The size of the American Deaf community is currently
estimated to be several hundred thousand people (Padden and Humphries
1988). Approximately 90% of these individuals marry another deaf person
(Schein 1989). Many deaf couples would prefer to have deaf children and
are eager to find out about the cause of their own deafness (Jordan 1991;
Arnos et al. 1991). While these individuals may be stigmatized by past
experiences of medicalization of their deafness and by misunderstandings
of the goals of genetic counseling, the availability and sensitivity of genetic
counselors to their special needs has greatly improved, giving more and
more deaf couples very positive and beneficial experiences with genetic
counseling. Both deaf and hard of hearing adults can benefit from an exact
diagnosis of the etiology of hearing loss, information about any associated
medical or physical features (syndromes), access to research protocols or
clinical tests, and reproductive information.
It may be appropriate for some families or individuals to be referred a
second time for genetic counseling. If there is a significant change in the
family history (i.e., the birth of another child with a hearing loss) or in the
medical history (i.e., a deaf child develops night blindness), another refer-
ral is indicated. A deaf adult who was initially evaluated as a child may now
wish to talk with a genetic counselor about the implications of the earlier
diagnosis for family planning. Lastly, because of the rapid pace with which
this field is growing, a second or subsequent referral may be appropriate in
order to discuss new advances in genetic testing.
3. The Process of Genetic Counseling
As shown in Table 9.1, the process of genetic counseling involves the
collection of different types of information, and proceeds through several
different steps. The genetics evaluation is often performed by a team of pro-
fessionals, which includes a clinical geneticist (a medical doctor) and
a genetic counselor, among others. Once a family or individual has been
referred for evaluation and counseling, the genetic counselor will work with
them to assess their needs and the purpose of the evaluation, and to collect
preliminary information regarding medical, family and audiologic history.
This information will often be collected over the phone, or the family may
be asked to fill out a history form prior to their visit. The physical exami-
nation and discussion with the family will occur over one or two face-to-
face visits with the clinical geneticist and the genetic counselor.
