Issue link: http://www.e-digitaleditions.com/i/399268
Copyright © Huntington Study Group 2014. All rights reserved. Meet the Founder, cont... Solid experimental evidence is key in making up one's mind, whether making decisions as a regulator at the FDA, as a clinician or prescriber, or as a patient, family, or consumer. I find the commonality in decision-making about the safety and benefits of medical products to be very relevant and interesting. I have also become more interested in direct-to-consumer genetic testing, which the FDA regulates as a device. There are important issues about comprehension, literacy and numeracy of direct-to-consumer genetic tests as well as their accuracy, applicability and predictability. Regulatory science can provide a knowledge base to address these issues. Of course, genetic testing, choices and decision-making have been a centerpiece of HD interest for the past two decades. We have learned a lot about genetic testing that is guided by experience, data, laboratory quality, and knowledgeable clinicians, but this is not direct- to-consumer. HD INSIGHTS: Where do you see direct-to-consumer genetic testing going in the future? SHOULSON: I think it's to be determined. You have to consider questions surrounding whether genetic testing should be treated as a medical device, because you usually use some kind of kit to do the testing. You have to ask, "Do we know enough about the scientific precision, predictability, and accuracy of the results? Do we know enough about the attitudes, beliefs, comprehension, expectations and resulting behaviors of the consumer as well as the clinicians to whom the consumers turn?" In other words, is direct-to- consumer genetic testing "good to go" as an over-the-counter medical product? I feel that we are not quite there yet, and there is a lot to learn. Consumers expect that their clinician will be able to guide them about the results of genetic testing, but that may not be in keeping with the knowledge and competencies of the clinician. It will take time to sort this out. HD INSIGHTS: You have devoted forty years of your professional life to advancing knowledge and therapeutics for HD. What would you like to see happen in the future? SHOULSON: It has been that long? In terms of HD, I think we need some substantive treatments, although I'm of the mind that substantive treatments come about incrementally and gradually. When you look back in ten or twenty years, it looks like a quantum leap. That certainly was true in developing HIV therapies. In HD, we have had the benefit of quickly improving understanding of the etiology, pathogenesis, and scientific foundations around HD. I expect incremental gains will be realized for our patients and their families. HD INSIGHTS: When you are not working on therapeutic developments for HD, how do you spend your free time? SHOULSON: I do a lot of traveling. Most is work-related, but I also do a lot with my wife Josie and family. We have a getaway place in Florida that's right on the beach. I enjoy exercising, walking, and taking in the outdoors. HD INSIGHTS: I hear you have a very young companion in some of your exercises. SHOULSON: Oh, you mean my grandson Noah? Yes, he's a joy. It's really nice to experience this again. As a parent, it's so interesting to watch your kids grow up. But when you get a chance to do it again with grandchildren, it's fabulous, interesting and gratifying. A great environment for my encore career! HD INSIGHTS: Thank you very much for all of your contributions to the HSG and to the HD field. The field certainly wouldn't be where it is without you and your leadership over the past four decades. 1 Kieburtz K, McDermott M, Como P, et al. The effect of deprenyl and tocopherol on cognitive performance in early untreated Parkinson's disease. Parkinson Study Group. Neurology. 1994;44(9):1756-1759. 2 The Huntington Study Group PHAROS Investigators. At risk for Huntington disease: The PHAROS (Prospective Huntington At Risk Observational Study) cohort enrolled. Arch. Neurol. 2006;63(7):991-996. 3 Cooperative Huntington's Observational Research Trial: NCT00313495. [Webpage]. 2014; clinicaltrials.gov/show/ NCT00313495. Accessed 10/7/2014. 4 Biglan KM, Dorsey ER, Evans RV, et al. Plasma 8-hydroxy-2'- deoxyguanosine Levels in Huntington Disease and Healthy Controls Treated with Coenzyme Q10. JHD. 2012;1(1):65-69. 5 Dorsey R, Biglan K, Eberly S, et al. Use of Tetrabenazine in Huntington Disease Patients on Antidepressants or with Advanced Disease: Results from the TETRA-HD Study. PLoS currents. 2011;3:Rrn1283. 6 Lannfelt L, Blennow K, Zetterberg H, et al. Safety, efficacy, and biomarker findings of PBT2 in targeting Abeta as a modifying therapy for Alzheimer's disease: a phase IIa, double-blind, randomised, placebo-controlled trial. Lancet neurol. 2008;7(9): 779-786. "We've had the benefit of quickly improving understanding of the etiology, pathogenesis, and scientific foundations around HD." H D I N S I G H T S HD Insights, Vol. 9 19