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James P. Evans, MD, PhD

James P. Evans, MD, PhDClinical Professor

 

 

 

Research Interests

Key words: Medical Genetics, Clinical Cancer Genetics, Pharmacogenomics

My major interests lie within the field of clinical cancer genetics, pharmacogenomics and public policy as it relates to genetics.  I direct the Clinical Cancer Genetics Services at the University of North Carolina.  In the Cancer Genetic Clinic we evaluate and counsel patients who are perceived to be at high risk for cancer by virtue of their personal or family medical history.  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. 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 malignancies. Genetic testing is performed in-house for BRCA1/2.

Two of my research interests focus on pharmacogenomics (the study of genetically determined individual response to medications) and attitudes towards the use of genetic information.  By defining the genetic underpinnings of drug response one should eventually be able to minimize adverse reactions to medications and improve efficacy.  Toward this end we investigate the genetic influences that underlie response to the commonly used anticoagulant, warfarin, and tamoxifen, an agent commonly used in the treatment and prevention of breast cancer.

I am interested in policy issues as they relate to genetics.  Towards this end, I have been highly active in science education of the US judiciary at the State Supreme Court and Federal level, as well as at the Supreme Court level internationally.  I am a member of the advisory committee to the US Secretary of Health and Human Services on Genetics, Health and Society.

 

Media Coverage:

 

 

Publications:

PubMed graphic

 

Select Publications: 

  1. Evans JP, Watzke HW, Ware JL, Stafford DW, High KA. Molecular cloning of a cDNA encoding canine factor IX. Blood. 74:207-212, 1989.

  2. Evans JP, Brinkhous KM, Reisner H, Brayer GD, and High KA. A point mutation in canine hemophilia B with unusual consequences. Proc. Natl. Acd. Sci. USA. 86:10095-10099, 1989.

  3. 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.

  4. Palmer SE, Scherer S, Kukolich M, Wijsman EM, Tsui L-C, Stephens K, and Evans JP. Evidence for locus heterogeneity in autosomal dominant split hand/split foot malformation. American Journal of Human Genetics. 55:21-26, 1994.

  5. 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.

  6. Nunes M, Pagon R, Disteche CJ, and Evans JP. A contiguous gene deletion syndrome at human 7q21-q22 and implications for the relationship between isolated ectrodactyly and syndromic ectrodactyly. Clinical Dysmorphology. 3:277-286, 1994.

  7. 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.

  8. Marinoni JC, Stevenson RE, Evans JP, Geshuri D, Phelan MC, Shewartz CE. Split foot and developmental retardation associated with a deletion of three microsatellite makers in 7q21-q22.1. Clinical Genetics. 47:90-95, 1995.

  9. Steiner RD, Evans JP, Uemichi T, Paunio T, and Benson MD. Familial amyloidosis, Finish type, in three generations of a Swedish-American family is caused by asparaginase substitution for aspartic acid at gelson residue 187. Human Genetics. 95:327-330, 1995.

  10. 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.

  11. Crackower MA, Scherer SW, Rommens JM, Hui CC, Poorkaj P, Soder S, Cobben JM, Hudgins L, Evans  JP, Tsui LC. Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Human Molecular Genetics. 5(5): 571-9, 1996 May.

  12. Nunes ME, Schutt G, Kapur RP, Luthardt F, Kukolich M, Byers P, Evans JP. A second autosomal split hand/split foot locus maps to chromosome 10q24-q25. Human Molecular Genetics. 4(11): 2165-70, 1995 Nov.

  13. Scherer SW, Heng HH, Robinson GW, Mahon KA, Evans JP, Tsui LC. Assignment of the human homolog of mouse D1x3 to chromosome 17q21.3-q22 by analysis of somatic cells hybrids and fluorescence in situ hybridization. Mammalian Genome. 6(4):310-1, 1995 Apr.

  14. Brentnall TA, Rubin CE, Crispin DA, Stevens A, Batchelor RH, Haggitt RC, Bronner MP, Evans JP, McCahill LE, Bilir N, et al. A germline substitution in the human MSH2 gene is associated with high-grade dysplasia and cancer in ulcerative colitis. Gastroenterology. 109(1):151-5, 1995 Jul.

  15. Evans JP. Genomics: Delayed Reaction. Hospitals and Health Networks, 74 (12):42-44. 2000

  16. Hadler N & Evans JP. Medicalization of the Genome. Commentary in Current Anthropology, 42 (2):252-253. 2001

  17. Evans JP, Skrzynia C, Burke W. The complexities of predictive genetic testing. British Medical Journal. 322: 1052-1056. 2001

  18. Finkler K, Skrzynia C, Evans JP. The new genetics and its consequences for family, kinship, medicine, and medical genetics. Social Science and Medicine; 57(3): 403-412. 2003

  19. Burke W, Acheson L, Botkin J, Bridges K, Davis A, Evans JP et al. Genetics in Primary Care: A USA Faculty Development Initiative. Community Genetics 5:138-146. 2002

  20. McKelvey K and Evans JP. Cancer Genetics in the Primary Care Setting. J. of Nutrition. 133:3767S-3772S. 2003

  21. Moorman P, Calingaert B, Evans JP, Hoyo C, Newman B, Skinner C, Sorenson J, Schildkraut J. Racial Differences in Enrollment in a Cancer Genetics Registry; Cancer Epidemiology, Biomarkers and Prevention; 13(8): 1349-1354. 2004.

  22. Barrows DO, Shockley WW, Wright JD, Susswein L, Evans JP, Funkhouser WK and Loechner KJ. Metastatic Medullary Thyroid Cancer in a Pediatric Patient with MEN 2B. Clin Pediatr 45:463-467 2006.

  23. 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.

  24. 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

  25. Evans JP. Healthcare in the Age of Genetic Medicine. JAMA 298(22): 2670-2672. 2007

  26. Evans JP. A Future for Medical Genetics: Lessons from Catch 22.  Genetics in Medicine. 9:1, 2007.

  27. Evans JP. Celebrating the birthday of our intellectual common ancestor. Genetics in Medicine. 9:63, 2007
  28. Evans JP, Khoury MJ. Evidence based medicine meets genomic medicine. Genetics in Medicine. 9:, 2007
  29. Evans JP, Burke W. Genetic exceptionalism. Too much of a good thing? Genetics in Medicine. 2008 Jun 18. [Epub ahead of print]
  30. Evans JP. Recreational genomics; what's in it for you? Genetics in Medicine (in press)
  31. Khoury MJ, Berg A, Coates R, Evans JP, Teutsch S, Bradley L. The Evidence Dilemma in Genomic Medicine: The Need for a Road Map for Appropriate Integration of Genomic Discoveries into Clinical Practice. Health Affairs; (in press)

 

Clinic Members

  • Cecile Skrzynia
 Genetic Counselor ::email
  • Ofri Leitner
 Genetic Counselor :email
  • Catherine Fine
 Genetic Counselor

::email
  •  Kristy Lee
 Genetic Counselor ::email
  • Amy Perou
 Clinic Manager ::email

 

Contact Information

5095 GMB, CB# 7264
Chapel Hill, NC 27599-7264

Office: (919) 966-2007
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