Bryson Distinguished Professor of Genetics and Medicine
Key words: Medical Genetics, Clinical Cancer Genetics, Pharmacogenomics
My major interests lie within the field of clinical cancer genetics, the use of high-throughput sequencing in clinical medicine and public policy as it relates to genetics. I direct the Clinical Adult and Cancer Genetics Services at the University of North Carolina. In this clinic we evaluate and counsel patients who have (or are suspected of having) a variety of genetic conditions, including high risk for cancer. This comprehensive clinic provides evaluation, counseling and risk assessment through pedigree analysis and genetic testing when appropriate. The clinic has grown substantially since its inception and we now see, on average, approximately 20 patients per week in consultation. While breast/ovarian cancer comprises the bulk of our activity, we see numerous patients with elevated risk for a great variety of different conditions and malignancies. Genetic testing is performed in-house for BRCA1/2.
My research interests focus primarily on the use of massively parallel DNA sequencing for gene discovery and the use of such technology for clinical diagnosis. I am also interested in attitudes towards the use of genetic information. These interests are combined in a current effort in which whole exome sequencing is being pursued in a large number of patients with a variety of indications.
I am also interested in policy issues as they relate to genetics. Towards this end, I have been highly active in scientific education of the US judiciary at the State Supreme Court and Federal level, as well as at the Supreme Court level internationally. These efforts were described in an article in the New York Times in 2008. My activity in policy issues resulted in testimony before the US Congress in 2010 regarding the regulation of direct-to-consumer genetic testing. I was a member of the advisory committee to the US Secretary of Health and Human Services on Genetics, Health and Society and spearheaded that committee’s task force that investigated gene patenting and its effect on patient care.
- Evans JP, Watzke HW, Ware JL, Stafford DW, High KA. Molecular cloning of a cDNA encoding canine factor IX. Blood. 74:207-212, 1989.
- Evans JP, and Palmiter RD. Retrotransposition of a mouse L1 element. Proc. Natl. Acad. Sci. USA. 88:8792, 1991.
- Scherer SW, Poorkaj P, Allen T, Kim J, Geshuri D, Nunes M, Soder S, Stevens K, Pagon RA, Patton MA, Berg MA, Donlon T, Rivera H, Pfeiffer RA, Naritomi K, Hughes H, Genuardi M, Gurrieri F, Neri G, Lovrein E, Magenis E, Tsui L-C, and Evans JP. Fine mapping of the Autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-a22. American Journal of Human Genetics. 55:12-20, 1994.
- Scherer S, Poorkaj P, Geshuri D, Nunes M, Geneuardi M, Tsui L-C, and Evans JP. Physical mapping of the human split hand/ split foot (SHSF) locus on chromosomes 7 reveals a relationship between SPSF and the syndromic ectrodactylies. Human Molecular Genetics. 3:1345-1354, 1994.
- Jarvik GP, Patton MA, Homfray T, and Evans JP. Segregation distortion in a human developmental disorder: split hand/ split foot malformation. Am. J. Hum. Genet. 55:710-713, 1994.
- Evans JP, Burke W, Chen R, Bennett R, Schmidt R, Dellinger EP, Kimmey M, Crispin D, Brentnall TA, and Byrd DA. Familial pancreatic adenocarcinoma: association with diabetics and exocrine insufficiency and early molecular diagnosis. Journal of Medical Genetics. 32:330-335, 1995.
- Evans JP, Skrzynia C, Burke W. The complexities of predictive genetic testing. British Medical Journal. 322: 1052-1056. 2001.
- Li T, Lange LA, Li X, Susswein L, Bryant B, Malone R, Lange E, Huang T-Y, Stafford D and Evans JP. Polymorphisms in the VKOR gene are strongly associated with warfarin dosage requirements in patients receiving anticoagulation. Journal of Medical Genetics 43(9): 740-744. 2006.
- Susswein LR, Skrzynia C, Lange LA, Booker JK, Graham ML, Evans JP. Increased Uptake of BRCA1/2 Genetic Testing Among African American Women with a Recent Diagnosis of Breast Cancer. 2007. J. Clin. Oncology; 26:32-36. 2008.
- Evans JP. Healthcare in the Age of Genetic Medicine. JAMA 298(22): 2670-2672. 2007.
- Evans JP, Burke W. Genetic exceptionalism. Too much of a good thing? Genetics in Medicine 10 (7):500-501. 2008.
- Evans JP. What is Art? In Imagining Science: Art, Science and Social Change. University of Alberta Press, editors: Sean Caulfield and Timothy Caulfield. 2008.
- The International Warfarin Pharmacogenetics Consortium. Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data. New England Journal of Medicine 360 (8): 753-764. 2009.
- Evans JP. The voyage continues; Darwin and Medicine at 200 years. JAMA 301 (6):661-663. 2009
- Baumanis LI, Evans JP, Callanan N, Susswein L. Telephoned BRCA1/2 Genetic Test Results: Prevalence, Practice and Patient Satisfaction. J of Genetic Counseling 18 (5): 447. 2009.
- Evans JP, Green RC. Direct to Consumer Genetic Testing; Avoiding a Culture War. Genetics in Medicine 11(8):568. 2009.
- Adder T, Callanan N, Susswein L, Evans JP. Prevelance and Attitudes towards anonymous genetic testing. J of Genetic Counseling 18 (6): 606. 2009.
- Evans JP, Dale DC, Fomous C. Preparing for a Consumer-Driven Genomic Age. New England Journal of Medicine 363 (12):1099. 2010.