Bringing the Genetic and Genomic Revolution to Developmental Disabilities Nursing

By J. Carolyn Graff PhD, RN, FAAIDD 

 

With the completed sequencing of the human genome and ongoing genetic and genomic advances, nurses have incredible opportunities to use this new information to benefit the health of persons with intellectual and developmental disabilities. As a nurse with many years of clinical experience in the field of intellectual and developmental disabilities, I have shared information with families, helped family members locate support groups, developed strategies to assure children’s health needs were addressed at home and school, and referred families to a variety of specialists to include genetic specialists. In 2003, I had the outstanding opportunity to participate in the National Institute of Nursing Research Summer Genetics Institute. Confident in my clinical knowledge of genetic disorders, I was both overwhelmed and energized by the information I received during the Institute’s lectures and lab sessions. I realized my knowledge of human genetics was superficial and my understanding of the Human Genome Project was lacking. During my two months at the Institute, I kept thinking that this new genetic information must be used to benefit persons with intellectual and developmental disabilities and their families. This issue of the International Journal of Nursing in Intellectual and Developmental Disabilities has given me and the other authors in this issue an opportunity to share information about genetics and relate that information to developmental disability nursing practice. My goal is to whet your interest in genetics so that you will have an insatiable desire to learn more about this exciting area of science. To guide you on your adventure, I authored the article on integrating genetics and genomics into developmental disabilities nursing practice. My intent in writing this article was to help you begin integrating genetics and genomics into your practice by providing you with an overview of genetics and resources you can use to expand your knowledge in this exciting area.

One valuable resource for promoting education and access to information about genetic advances is the National Coalition for Health Professional Education in Genetics (NCHPEG). The focus of the recent NCHPEG Annual Meeting in Bethesda, Maryland, was pharmacogenomics, a science that helps explain why some of us respond one way to a medication and others respond in different ways. In this issue, Howe and Eggert effectively describe how pharmacogenomics can influence management of disease and symptoms. The management of chronic diseases using pharmacogenomics will be among our future responsibilities as health professionals.

The importance of prevention, early diagnosis, and thorough assessment of intellectual and developmental disabilities are presented by Giarratano and Williams in their well-written article on fetal alcohol syndrome. These authors examine the risk of injury and susceptibility for more severe consequences of fetal alcohol syndrome in light of genetic determinants. Dorman and Kronk describe the importance of nurses in the collection and use of family history information to determine the underlying etiology of a genetic disorder. They include excellent strategies for integrating the family history and pedigree construction into developmental disability nursing practice.

In their article, Barr and Skirton call for increased genetic education for developmental disability nurses and point out some of the challenges that nurses will face when applying this new knowledge to the lives of persons with intellectual and developmental disabilities. They thoughtfully discuss the ethical issues involving antenatal or prenatal screening and the limited access persons with intellectual and developmental disabilities have to information about genetics and their own genetic disorder.

These articles and the superb book reviews by Judy Lewis and Wendy Nehring provide avenues for developmental disability nurses to gain new knowledge and understanding of genetics and genomics. As Dorman and Kronk point out, nurses’ use of genetic knowledge can be critical for persons with intellectual and developmental disabilities. Acquiring a greater understanding of genetics will strengthen our ability to advocate, counsel, educate, and support persons with intellectual and developmental disabilities and their families. And that is what we are about.

Dr. Carolyn Graff, PhD, RN, FAAIDD has over 25 years of experience in practice, education, and research related to persons with intellectual and developmental disabilities who live in the United States. She completed an interdisciplinary traineeship in intellectual and developmental disabilities at the University of Kansas and worked as Chief of Nursing in the University Center of Excellence in Developmental Disabilities at the University of Kansas Medical Center and the University of Tennessee Health Science Center. She was an NIH fellow at the National Institute of Nursing Research Summer Genetics Institute and completed the Web-Based Genetics Institute through the Cincinnati Children’s Medical Center. She has numerous publications and has presented nationally and internationally on topics related to the health of persons with intellectual and developmental disabilities and their families. Carolyn is currently examining the communication between parents and siblings of children with genetic disorders and the health of grandparents caring for their grandchildren with special needs. She participates in the National Sibling Research Consortium and is on the advisory board for The Sibling Support Project. As a member of the American Association on Intellectual and Developmental Disabilities (AAIDD), she is the current chair of the Awards and Fellowship Committee and is on the Planning Committee for AAIDD’s 131^st Annual Conference. Past contributions to AAIDD include president of the Nursing Division, chair of the Nursing Interests Action Group, co-chair of the Health and Wellness Action Group, and member of the Environmental Health Initiative and the Health Promotion Coordinating Committee. She is a member of the American Public Health Association, Developmental Disabilities Nurses Association, International Society of Nurses in Genetics, and the Society of Pediatric Nurses.