In this episode, we provide a primer on basic genetics and explain differences between deterministic genes (e.g., for Huntington’s disease) and probabilistic risk genes (e.g., the Apolipoprotein [APOE] ε4 allele in Alzheimer’s disease).
A pdf of the transcript for this episode is available here.
Topics Covered
- Intro (3:50)
- Relative risk genes for AD (8:55)
- What we can learn from the literature on disclosing an Alzheimer’s disease (AD) diagnosis that can inform disclosing genetic risk for AD (16:55)
- The Risk Evaluation and Education in Alzheimer’s Disease (REVEAL) study: overview, design, and selected findings (20:15)
- What people often do with the information from an AD genetic risk disclosure (24:04)
- Whether or not learning one’s genetic risk for AD leads to behavior change to improve brain health (26:45)
- Whether or not learning that someone has the APOE ε4 allele leads to negative psychological outcomes such as depression, anxiety, and suicidality (27:59)
- The recommendations of published guidelines with respect to disclosing APOE status to patients (44:29)
- Useful clinical strategies and techniques for presenting a patient with the news that they have one or two APOE ε4 alleles (45:26)
- The impact of race and culture on knowledge of genetic risk for AD (51:50)
- The impact of the APOE ε4 allele on cognition above and beyond risk for AD, and the pros and cons of educating patients on this risk during disclosure visits (55:59)
- Direct-to-consumer (DTC) genetic testing: what it is and how it might impact the healthcare landscape with respect to genetic risk for AD (58:20)
- Whether and how information from DTC testing might be used for non-healthcare purposes such as insurance/employment eligibility and romantic partner selection (1:02:03)
- How a neuropsychologist can handle a situation where their patient asks them whether or not they should pursue DTC testing (1:07:39)
- How a genetic disclosure visit is similar to and different from a typical neuropsychological feedback session (1:10:37)
- A mock genetic counseling session (1:13:16)
About Meghan
Dr. Meghan Collier earned her Ph.D. in clinical psychology at Suffolk University, where she specialized in neuropsychology. She completed her pre-doctoral internship at VA Connecticut Healthcare System in West Haven, with a focus in neuropsychology and minor rotations in cognitive rehabilitation and health psychology. She then completed a post-doctoral fellowship in geriatric neuropsychology at the Alpert Medical School of Brown University, where she provided consultation to the Geriatric Psychiatry Unit and the Memory and Aging Program at Butler Hospital. During fellowship, Meghan continued to pursue research interests in early detection, prevention, and treatment of Alzheimer’s disease, and the psychological and behavioral consequences of biomarker disclosure and associated risk of dementia with cognitively normal older adults. She currently provides neuropsychological services to adults at a group practice in Rhode Island, coordinates the Brown Neuropsychology Training Program’s Research Interest Group, and is a contributor to the Brown’s didactic seminar series.
Selected References
Akinleye, I., Roberts, J. S., Royal, C. D., Linnenbringer, E., Obisesan, T. O., Fasaye, G.-A., & Green, R. C. (2011). Differences between African American and white research volunteers in their attitudes, beliefs and knowledge regarding genetic testing for Alzheimer’s disease. Journal of genetic counseling, 20(6), 650-659.
Ashida, S., Koehly, L. M., Roberts, J. S., Chen, C. A., Hiraki, S., & Green, R. C. (2009). Disclosing the disclosure: factors associated with communicating the results of genetic susceptibility testing for Alzheimer’s disease. Journal of health communication, 14(8), 768-784.
Besser, A. G., Sanderson, S. C., Roberts, J. S., Chen, C. A., Christensen, K. D., Lautenbach, D. M., . . . Green, R. C. (2015). Factors affecting recall of different types of personal genetic information about Alzheimer’s disease risk: the REVEAL Study. Public health genomics, 18(2), 78-86.
Bloss, C. S., Wineinger, N. E., Darst, B. F., Schork, N. J., & Topol, E. J. (2013). Impact of direct-to-consumer genomic testing at long term follow-up. Journal of medical genetics, jmedgenet-2012-101207.
Goldman, J. S., Hahn, S. E., Catania, J. W., Larusse-Eckert, S., Butson, M. B., Rumbaugh, M., . . . Mayeux, R. (2011). Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors. Genetics in Medicine, 13(6), 597.
Green, R. C., Roberts, J. S., Cupples, L. A., Relkin, N. R., Whitehouse, P. J., Brown, T., . . . Quaid, K. A. (2009). Disclosure of APOE genotype for risk of Alzheimer’s disease. New England Journal of Medicine, 361(3), 245-254.
Guan, Y., Roter, D. L., Erby, L. H., Wolff, J. L., Gitlin, L. N., Roberts, J. S., . . . Christensen, K. D. (2017). Disclosing genetic risk of Alzheimer’s disease to cognitively impaired patients and visit companions: Findings from the REVEAL Study. Patient education and counseling, 100(5), 927-935.
Kim, J., Basak, J. M., & Holtzman, D. M. (2009). The role of apolipoprotein E in Alzheimer’s disease. Neuron, 63(3), 287-303.
Lautenbach, D. M., Christensen, K. D., Sparks, J. A., & Green, R. C. (2013). Communicating genetic risk information for common disorders in the era of genomic medicine. Annual review of genomics and human genetics, 14, 491-513.
Liu, C.-C., Kanekiyo, T., Xu, H., & Bu, G. (2013). Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy. Nature Reviews Neurology, 9(2), 106.
Roberts, J. S., Christensen, K. D., & Green, R. C. (2011). Using Alzheimer’s disease as a model for genetic risk disclosure: implications for personal genomics. Clinical genetics, 80(5), 407-414.
Verghese, P. B., Castellano, J. M., & Holtzman, D. M. (2011). Apolipoprotein E in Alzheimer’s disease and other neurological disorders. The Lancet Neurology, 10(3), 241-252.
Ward, A., Crean, S., Mercaldi, C. J., Collins, J. M., Boyd, D., Cook, M. N., & Arrighi, H. M. (2012). Prevalence of apolipoprotein E4 genotype and homozygotes (APOE e4/4) among patients diagnosed with Alzheimer’s disease: a systematic review and meta-analysis. Neuroepidemiology, 38(1), 1-17.
This is a touching story from a neurologist who found out that he was homozygous for the apolipoprotein E (APOE) ε4 allele: 10.1001/jamaneurol.2018.4910
