Growing consumer awareness and the increasing availability of genetic tests for many conditions is likely increasing the number of questions your patients are asking about their risk of disease, the risk to their offspring and whether genetic testing is right for them. Genetic counselors can help you address your patients’ needs and incorporate genetics and genomics into your practice.
1. What is neurogenetics?
Neurogenetics is an area of specialization within medical genetics and neurology that focuses on hereditary neurologic conditions. These conditions include inherited forms of childhood and adult-onset muscular dystrophies, myopathies, neuromuscular, and movement disorders.
2. Who should I refer to a neurogenetics counselor?
Patients with suspected or known neurogenetic conditions or with a family history of hereditary neurogenetics condition, including but not limited to:
- Muscular dystrophies/myopathies: dystrophin-associated, congenital muscular dystrophies, facioscapulohumeral muscular dystrophy, limb girdle weakness, myotonia, oculopharyngeal muscular dystrophy
- Neuromuscular disorders: peripheral neuropathies, ALS, spinal muscular atrophies
- Hereditary movement disorders: ataxia, dystonia, spastic paraplegia, Huntington’s chorea, Parkinsonism
- Person with unexplained: elevated CK levels; ptosis; facial weakness; muscle atrophy
3. What benefit does a neurogenetics counselor provide to my patients (PCP and/or specialist)?
Neurogenetic counselors use their unique specialized education in medical genetics, neurology, and counseling to help physicians and their patients translate complex genetic science into practical, decision-making information to ensure the best patient outcomes and highest patient satisfaction.
A neurogenetics counselor takes a complete family history, identifies who in the family is at risk for an inherited neurogenetics condition and provides information about genetic testing and family planning options those individuals.
A neurogenetics counselor also facilitates the genetic testing process: by identifying the most informative family member to test, assessing the most useful genetic test for a patient and their family, interpreting the results, and helping the family and their physicians apply the results to the family’s care.
Genetic counselors help families with hereditary neurologic conditions deal with many of the personal aspects of having an inherited condition in the family, such as decisions about reproductive options and family planning as well as adjusting emotionally to having or being at risk to have a hereditary neurologic condition. They can also facilitate referrals to long-term resources such as community agencies, condition-specific support organizations, and other families with the same condition.
4. What evidence is there to recommend or support genetic counseling in neurogenetics?
Genetic counseling has been long recognized as an essential component to the care and management to Huntington disease patients and their at risk family members (Bennett RL, et al. Offering Predictive Testing for Huntington Disease in a Medical Genetics Clinic: Practical Applications. Journal of genetic Counseling, 1993 2 (3): 123-137. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group. Am J Hum Genet. 1998 May;62(5):1243-7.)
As the knowledge of genes involved in neurogenetic has expanded so has the need and expert recommendation of genetic counseling for individuals and families with neurogenetic conditions: Duchenne: Bushby K, et al. DMD Care Considerations Working Group. Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and pharmacological and psychosocial management. Lancet Neurol 2010 Jan;9(1):77-93; (2) Eur J Neurol. 2010 May 25).
The neurogenetic conditions have proven to be a genetically complex group of conations that have significant effect on psychological health of patients and families affected with these conditions. Genetic counseling can also be key to ensuring the accurate and appropriate use and interpretation of genetic tests (Genetic Counseling and Genetic Testing for Alzheimer’s Condition: Joint Practice Guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors http://www.nsgc.org/Publications/PracticeGuidelines/tabid/313/Default.aspx)
International Huntington Association and World Federation of Neurology; Guidelines for the molecular genetic predictive test in Huntington's disease. J Med Genet. 1994;31:555–9. [PubMed: 7966192]
International Myotonic Dystrophy Consortium. New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). Available at www.neurology.org. 2000.
American Society of Human Genetics and American College of Medical Genetics. Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. Available at www.ashg.org. 1995.
Anita S.D. Saporta, Stephanie L. Sottile, Lindsey J. Miller, Shawna M.E. Feely, Carly E. Siskind and Michael E. Shy. Charcot-marie-tooth disease subtypes and genetic testing strategies. Ann Neurol 2011;69:22-33
G. Evers-Kiebooms, M. Welkenhuysen, E. Claes, M. Decruyenaere and L. Denayer. The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counselling and for genetic education. Social Science & Medicine Volume 51, Issue 6, 15 September 2000, Pages 831-841
Robins Wahlin TB. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns. 2007;65:279–87. [PubMed: 17000074]
A.C. DudokdeWit, H.J. Duivenvoorden, J. Passchier, M.F. Niermeijer and A. Tibben, Course of distress experienced by persons at risk for an autosomal dominant inherited disorder participating in a predictive testing program: an explorative study—Rotterdam/Leiden Genetics Workgroup, Psychosom Med 60 (1998), pp. 543–549
C.O. Smith, H.P. Lipe and T.D. Bird, Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders, Arch Neurol 61 (2004), pp. 875–880.
5. What do I tell my patient about a referral to neurogenetics (what to expect during the appointment, what questions will be asked, what topics will be discussed, how the appointment will be valuable to them)?
The goal of an appointment with a neurogenetics counselor is to provide information and support to the patient and his or her family members to facilitate understanding of the neurogenetic condition affecting the family.
An appointment with a neurogenetics counselor will include discussing the patient’s medical and family history. The counselor may ask questions about neurologic conditions in the family, neurology evaluations for family members, and symptoms related to hereditary neurologic condition. The counselor may discuss genetic testing options, the pros/cons of genetic testing, and the implication of genetic testing for the patient and family members. The counselor will also identify family members at risk for hereditary neurologic conditions, and discuss recommendations for medical evaluations. A counselor can also offer support and counseling to address psychosocial issues that may arise when a genetic condition is identified in a family.
6. Where can I find a genetic counselor specializing in neurogenetics?
Search the NSGC Find a Genetic Counselor Directory