Expert Commentary by Ginger Norris, MGC, CGC

Ginger Norris, MGC, CGC
vwnorris@gmail.com

Genetic Counseling in the Deaf Community

When I started working with the Deaf community at Gallaudet, I had some limited exposure to the Deaf community. I had taken several ASL classes (and forgotten most of what I learned) and had counseled two clients who were deaf for advanced maternal age. This certainly did not prepare me for the unique experience I was about to have. For the first time in my highly articulate life I had problems communicating. I had to learn a new way to communicate and present information. I also got a small glimpse into a culture different from, and at the same time similar to, my own. The individuals I met were educated, curious about themselves, and full of dreams for the future. I also had the privilege of getting to know many generous people who were willing to share their experiences with me. If a counselor is open to learning from every client, each session is an opportunity to improve one’s skills. Working with the Deaf community definitely made me a better counselor.

A genetic counselor has a good chance to have at least one client who is deaf or hard of hearing during her/his career. There are at least 20 million people in the U.S. with some degree of hearing loss, 2 million are profoundly deaf, but only a few hundred thousand are culturally Deaf. Many individuals who are deaf are motivated to seek genetic counseling to learn about the cause of their deafness, but that is not the only reason. Many individuals want to learn about the implications for other family members, especially future children or to discuss other family history or medical history concerns, like advanced maternal age or a diagnosis of breast cancer. While a counselor should never assume that a client who is deaf is seeking counseling because of their deafness, the cause of deafness should be explored to rule out the possibility of a serious health problem that can be associated with some forms of syndromic deafness.

In graduate school, we were taught to use neutral terms when talking with our clients, for example chance instead of risk or condition instead of disease. This lesson is an important lesson when working with Deaf clients and clients who are deaf. It is easy to assume that deafness is a disability, but many Deaf people view their deafness as merely a physical characteristic. There are many terms to describe someone who is deaf or hard of hearing. The term hearing impaired is an outdated term that is considered insensitive by most individuals. Hearing loss is a useful general term and is certainly more appropriate than hearing impaired; however, some Deaf people do not like this term. Most deaf people did not lose their hearing; they were born with profound deafness. Also, the American Sign Language (ASL) signs for “loss” and “progressive” may be the same and can be confused during a counseling session. The term deaf is often used to describe a person with profound (or possibly severe) hearing loss. Remember, that Deaf refers to a person with a hearing loss who uses ASL as his/her primary language. Hard of hearing is another term that many people use, but it means many different things to different people. To some the term hard of hearing indicates a moderate or moderately severe hearing loss. To others it could mean a person who is profoundly deaf but receives good benefit from hearing aids. It may imply progression or late deafened to some. Still others use it as more of a cultural designation, meaning a person who participates fully in the hearing world. It is acceptable to ask your client to tell you how he/she defines the terms.

Eliciting a pedigree from a deaf client can be challenging and can take longer than usual. Many Deaf individuals will tell you more than you thought you wanted to know, but if you pay attention the relevance of the information might become clear. A person who is deaf may not know all of their family history or even their own medical history. Deaf clients with a large family history of deafness may only tell you about her/his deaf relatives and not mention the hearing individuals. Be sure to ask about hearing relatives. Some individuals who are deaf and do not have deaf relatives find it hard to believe their deafness is genetic.

Working with interpreters can be challenging. When working with an interpreter, find a qualified professional. According to the EEOC and Department of Justice a qualified interpreter is defined as “an interpreter who is able to interpret effectively, accurately, and impartially both receptively and expressively, using any necessary specialized vocabulary.” Certified interpreters have a code of ethics similar to the code of ethics for genetic counselors. When working with an interpreter, I recommend a counselor meet with the interpreter to discuss the special terms which will be used. Working with an interpreter for the deaf is similar to working with interpreters for clients who don’t speak English – do not use a family member and face the client and speak directly to her/him. When working with a client who is deaf you should also make sure your office is well lit, limit visual distractions, keep objects away from your mouth, and speak at a normal pace and volume. To learn more about working with interpreters, their code of ethics, and to locate a certified interpreter, visit the website for the Registry of Interpreters for the Deaf at http://www.rid.org.

The causes of deafness are extremely heterogeneous and diagnosing the cause of a person’s deafness can be challenging. Approximately 60% of deafness is genetic, but most genetic deafness is recessive and nonsyndromic. Several genes for deafness have been identified, but testing is not widely available for most genes. GJB2 is a common cause of genetic deafness, and testing is widely available. GJB2 can be overlooked as a cause of deaf, but should be considered. Studies have shown that this gene can function as a dominant or recessive nonsyndromic gene or a syndromic gene; it can cause congenital deafness or early onset deafness; and it can cause profound deafness or a less severe form of hearing loss.

Deaf individuals often marry another Deaf person and often desire Deaf children. Approximately 90% of deaf couples have hearing children. For the Deaf couple to learn that they have a low chance to have a deaf child can be very upsetting or troublesome news. Studies have shown that very few Deaf couples would consider terminating a pregnancy based on hearing status of the fetus, but a Deaf couple may have real concerns about providing an appropriate auditory environment for a hearing child. Couples will benefit from talking to their friends and family, as well as other Deaf couples with hearing children, to realize that Deaf couples can easily provide the auditory stimulation hearing children need.

A Deaf individual with a large deaf family may believe they have a high chance to have deaf children and that the deafness in their family is a dominant condition. When analyzing the pedigree, don’t forget that GJB2 is a relatively common gene and the family may contain multiple cases of non-complementary mating. The inheritance pattern would still be recessive and the individual would actually have a lower chance than she/he expects to have a deaf child. Also, don’t forget to consider that there may be more than one cause of deafness in the large Deaf family.

Each day I worked with an individual who was deaf or a Deaf individual, I was reminded that each person who is deaf is an individual with unique life experiences. It is hard to give general advice about working with any person who is deaf. The best advice I can give to a counselor encountering a client who is deaf is the same advice we all learned in graduate school about working with any client - be sensitive and listen to your clients.

Blanton SH, Nance WE, Norris VW, Welch KO, Burt A, Pandya A, Arnos KS. (2010). Fitness among individuals with early childhood deafness: studies in alumni families from Gallaudet University.  Ann Hum Genet. 74:27-33.

Withrow KA, Tracy KA, Burton SK, Norris VW, Maes HH, Arnos KS, Pandya A. (2009). Provision of genetic services for hearing loss: results from a national survey and comparison to insights obtained from previous focus group discussions.  J Genet Couns. 18:618-21.

Withrow KA, Tracy KA, Burton SK, Norris VW, Maes HH, Arnos KS, Pandya A. (2009). Impact of genetic advances and testing for hearing loss: Results from a national consumer survey.  Am J Med Genet Part A 149A:1159–1168.

Norris VW, Arnos, KS Pandya A, Hanks W, Xia XJ, Nance WE and Pandya A. (2006). Does Universal Newborn Hearing Screening Identify all Children with GJB2 (Connexin 26) Deafness? Pentrance of GJB2 Deafness. Ear and Hearing, 27, 732-741.

Ginger Norris, a board certified genetic counselor, graduated from the University of Maryland Genetic Counseling Program. As a coordinator for several research studies about deafness at Gallaudet University, she provided genetic counseling services to members of the Deaf community for eight years. She has been invited to speak at numerous educational conferences and support groups about the genetics of deafness and genetic counseling. She has also coauthored several articles on these topics.

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