Expert Commentary by Brenda Finucane, MS, CGC
Brenda Finucane, MS, CGC
Former Executive Director, Genetic Services
Elwyn ~ 111 Elwyn Road ~ Elwyn, PA 19063
Counseling Mary, A Prenatal Client with Intellectual Disabilities
Over the course of their graduate training, genetic counselors are introduced to the concept of intellectual disability (ID) as a symptom of genetic conditions. Those who go on to work in prenatal and pediatric settings routinely address issues related to ID in the form of discussions with non-disabled clients about this symptom. A genetic counselor’s experience with ID is often limited to children with severe impairments who are seen in the context of a diagnostic genetics evaluation. These interactions do not necessarily prepare one for the experience of providing genetic counseling to a person who has ID. This also gives counselors a skewed perspective on ID that can hamper their ability to recognize the significance of mild cognitive symptoms in an affected adult. This is particularly true when, as is often the case, the patient is referred for an indication other than her own disability, as in a pregnant woman seen because of advanced maternal age, a mother accompanying her more severely limited child to a pediatric genetics clinic, or a patient with breast cancer referred for BRCA mutation testing.
This case study provides an in-depth look at the complex legal, ethical, and practical issues related to counseling individuals with ID. It offers an invaluable opportunity for genetic counselors to consider the unique challenges involved, while suggesting practical strategies to enhance the genetic counseling experience. It is equally relevant for graduate students and for established genetic counselors seeking to improve their skills when working with this unique client population. Ideally, the questions and preparatory work suggested in the case study should be explored prior to seeing a client with ID, proactively sensitizing the genetic counselor to relevant issues.
Of note, except where older literature is cited, the term “mental retardation” is virtually absent from the case study discussion. Among the many changes that the ID field has undergone over the past decade, one of the most significant involves its recent shift from the term “mental retardation” to “intellectual disabilities.” In 2007, the American Association on Mental Retardation formally changed its name to the American Association on Intellectual and Developmental Disabilities (AAIDD), after a lengthy and heated debate among its members and executive council. The next edition of AAIDD’s professional manual, written by a committee of international experts in disability, will present its first official definition of the term “intellectual disability” in 2010. Despite its pervasive use in medical circles, the term “mental retardation” is no longer considered acceptable by disability advocates, consumer groups, or the professional ID field. Genetic counselors need to take note of this important change, since a key aspect of working with people who have ID involves understanding current social and professional perspectives on their disability.
Please read one of Ms. Finucane's landmark papers on this topic:
Brenda Finucane, MS, CGC is a certified genetic counselor and formerly Elwyn's Executive Director of Genetic Services. She is widely published and has gained national recognition for her expertise in the behavioral and cognitive manifestations of genetic syndromes. Ms. Finucane has served on the scientific advisory committees of several genetics support organizations and has been an elected board member of the National Society of Genetic Counselors. During her leadership at Elwyn spanning over two decades, Ms. Finucane worked to create practical services which address the educational, behavioral, and health needs of people with genetic conditions.
