Resources and References
Finding a Genetic Counselor and Genetic Testing
There are many ways to access genetic counseling and testing. At this time, all genetic testing must be ordered through a healthcare provider, although sponsored testing programs may be able to connect you to a provider. Physicians vary in knowledge on genetic testing and their comfort in ordering such tests. People considering genetic testing for FTD should speak with a genetic counselor about their personal risk and to understand the testing process and possible results.
Genetic counselors are located in hospitals throughout the country and available by telemedicine. The “Find a Genetic Counselor” service, available through the National Society of Genetic Counselors, will allow you to search for genetic counselors by zip code, by specialty, and by whether they offer services by telehealth.
Genetic counseling providers associated with sponsored testing programs include:
- Learn more information on genetic counseling from the National Society of Genetic Counselors.
- Learn more about whether participating in genetic testing could result in genetic discrimination.
Several AFTD webinars on genetics in FTD are available:
- AFTD Educational Webinar: An Overview of FTD Genetics and the Role of Genetic Counseling (March 2018)
- AFTD Educational Webinar: FTD and Genetic Testing – A Practical Approach (November 2020)
- Perspectives in FTD Research Webinar: Gene Therapy in FTD, produced with the FTD Disorders Registry (December 2020)
AFTD has worked with the University of Pennsylvania Center for Neurodegenerative Disease Research to publish a booklet called Understanding the Genetics of FTD: A Guide for Patients and Their Families. You can download the booklet here or request a print copy by emailing firstname.lastname@example.org.
- The FTD Disorders Registry is a non-profit co-founded by AFTD to connect individuals to clinical research opportunities, provide resources on research participation, and gather information from individuals to inform clinical research. The Registry offers educational resources related to genetic testing and counseling.
The National Society of Genetic Counselors (NSGC), the professional organization for genetic counselors, is another resource you can contact to locate a certified genetic counselor in your area.
An excellent introduction to the fundamentals of genetics and genetic disorders is learn.genetics.utah.edu, an online resource developed and maintained by the University of Utah’s Genetic Science Learning Center.
For information on the genetics of Alzheimer’s disease, view the website of the National Institute on Aging for a fact sheet.
CureVCP is an organization devoted to curing diseases caused by mutations of the VCP protein, including FTD. Visit the CureVCP website for more information.
Content in the FTD Genetics section of AFTD’s website draws from numerous studies since 2009:
- Goldman, J. S., & Van Deerlin, V. M. (2018). Alzheimer’s Disease and Frontotemporal Dementia: The Current State of Genetics and Genetic Testing Since the Advent of Next-Generation Sequencing. Molecular diagnosis & therapy, 22(5), 505–513. https://doi.org/10.1007/s40291-018-0347-7
- Greaves and Rohrer, 2019, “An update on genetic frontotemporal dementia, https://pubmed.ncbi.nlm.nih.gov/31119452/
- Heuer, H. W., Wang, P., Rascovsky, K., Wolf, A., Appleby, B., Bove, J., Bordelon, Y., Brannelly, P., Brushaber, D. E., Caso, C., Coppola, G., Dickerson, B., Dickinson, S., Domoto-Reilly, K., Faber, K., Ferrall, J., Fields, J., Fishman, A., Fong, J., Foroud, T., … ARTFL and LEFFTDS consortia (2020). Comparison of sporadic and familial behavioral variant frontotemporal dementia (FTD) in a North American cohort. Alzheimer’s & dementia : the journal of the Alzheimer’s Association, 16(1), 60–70. https://doi.org/10.1002/alz.12046
- Knopman, D. S., & Roberts, R. O. (2011). Estimating the number of persons with frontotemporal lobar degeneration in the US population. Journal of molecular neuroscience : MN, 45(3), 330–335. https://doi.org/10.1007/s12031-011-9538-y
- Olszewska et al., 2016 Genetics of Frontotemporal Dementia (researchgate.net)
- Ramos et al., 2020 (Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases (wiley.com)
- Rohrer et al., 2009 The heritability and genetics of frontotemporal lobar degeneration (nih.gov)
- Seelaar H, Rohrer JD, Pijnenburg YA, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. J Neurol Neurosurg Psychiatry. 2011 May;82(5):476-86. doi: 10.1136/jnnp.2010.212225. Epub 2010 Oct 22. PMID: 20971753.
- Sirkis et al., 2019 Recent advances in the genetics of frontotemporal dementia (nih.gov)