Biology Reference
In-Depth Information
Genetic Counseling for Deafness
KATHLEEN S. ARNOS and M. KATHERINE OELRICH
1. Introduction
Genetic counseling is an important process through which families receive
information regarding the cause of a hereditary condition in a family
member, its management, its inheritance, and other medical or psycholog-
ical implications. Genetic counseling has been defined as “a communication
process that deals with the human problems associated with the occurrence,
or risk of occurrence, of a genetic disorder in a family” (Ad Hoc Commit-
tee on Genetic Counseling 1975). Instead of focusing on prevention of
genetic disease, genetic counseling emphasizes informed decision-making
by families based on information provided to them about the genetic
conditions that may be present. Genetic counseling is specific to the needs
of individual families. The emphasis is on effective communication and
non-directive provision of information. While some families are concerned
about the prevention of a genetic condition in future children, other
families seek only to gather information on the condition as it relates to
medical, psychological, or educational concerns.
2. The Importance of Genetic Counseling for Deaf
Children and Adults
Genetic factors account for a significant proportion of congenital or early-
onset deafness, and they are also thought to account for many cases of later-
onset hearing loss (Sill et al. 1994). There are major benefits of genetic
counseling for individuals and families with deafness, including families
with young children with hearing loss and deaf or hard of hearing adults.
In particular, most children with hearing loss can benefit from a genetic
evaluation, particularly with emerging improvements in the ability to use
genetic testing to confirm a specific diagnosis. In addition to providing
information about the cause of hearing loss, other medical implications,
and chance of recurrence, an effective genetic counselor can recognize the
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