Clinical genetics issues encountered by family physicians

Purpose: To describe the genetics-related clinical issues encountered by family physicians, and the medical problems they referred to genetics consultants.Methods: Questionnaires were mailed to a nationwide, random sample of 498 practicing family physicians, asking how many times in the past year they discussed genetic information about 19 familial or genetic conditions with patients and what proportion of the families with each genetic condition were referred for genetics consultation. Factor analysis was used to group the conditions.Results: The response rate was 38% (n = 190). Respondents were similar to nonrespondents except that more were women. Most family physicians reported discussing the genetics of common cancers, cardiovascular disease, and Alzheimer's disease with two or more patients in the past year. Thirteen percent had referred families for genetics assessment of breast-ovarian cancer but only two made genetics referrals for cardiovascular disease or dementia. 25% to 50% of family physicians had addressed genetic issues in at least one family with hemoglobinopathy, a blood clotting disorder, hemochromatosis, mental illness, vision loss or deafness, chromosome abnormality, infertility or pregnancy loss, congenital anomalies, mental retardation, and neurofibromatosis. Most cases were not referred to geneticists. Of respondents, 23% said that genetics consultation is very difficult to obtain or unavailable and 18% listed ethical and social dilemmas related to pursuing genetic diagnosis.Conclusion: Nationwide, family physicians address a variety of genetics issues with patients, most frequently consulting geneticists for perinatal conditions and familial cancers. Access to genetics consultation is more difficult in rural areas. These data may be used in organizing genetics services and in planning professional education programs for primary care clinicians.

[1]  K. Ormond,et al.  Outline of a medical genetics curriculum for internal medicine residency training programs , 2004, Genetics in Medicine.

[2]  J. Emery,et al.  Lay Understanding of Familial Risk of Common Chronic Diseases: A Systematic Review and Synthesis of Qualitative Research , 2004, The Annals of Family Medicine.

[3]  Jeffrey R. Martin,et al.  Genetic counseling in primary care: longitudinal, psychosocial issues in genetic diagnosis and counseling. , 2004, Primary care.

[4]  R. Edwards,et al.  Estimating the survival benefits gained from providing national cancer genetic services to women with a family history of breast cancer , 2004, British Journal of Cancer.

[5]  T Hyslop,et al.  Use of cancer susceptibility testing among primary care physicians , 2003, Clinical genetics.

[6]  K. Huelsman,et al.  Differences in physician referral practices and attitudes regarding hereditary breast cancer by clinical practice location , 2003, Genetics in Medicine.

[7]  R. Croyle,et al.  US physicians' attitudes toward genetic testing for cancer susceptibility , 2003, American journal of medical genetics. Part A.

[8]  R. Croyle,et al.  Physician use of genetic testing for cancer susceptibility: results of a national survey. , 2003, Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology.

[9]  Jeffery R. Botkin,et al.  Genetics in Primary Care: A USA Faculty Development Initiative , 2002, Public Health Genomics.

[10]  A. Guttmacher,et al.  Genetic test evaluation: information needs of clinicians, policy makers, and the public. , 2002, American journal of epidemiology.

[11]  M. Bernard.  Genetics in the Clinic: Clinical, Ethical, and Social Implications for Primary Care, , 2001 .

[12]  J. Austoker,et al.  Evaluation of the impact of two educational interventions on GP management of familial breast/ovarian cancer cases: a cluster randomised controlled trial. , 2001, The British journal of general practice : the journal of the Royal College of General Practitioners.

[13]  J. Emery,et al.  Referral of patients with a family history of breast/ovarian cancer--GPs' knowledge and expectations. , 2001, Family practice.

[14]  J Emery,et al.  The challenge of integrating genetic medicine into primary care , 2001, BMJ : British Medical Journal.

[15]  Wylie Burke,et al.  The complexities of predictive genetic testing , 2001, BMJ : British Medical Journal.

[16]  J. Austoker,et al.  A study of GP referrals to a family cancer clinic for breast/ovarian cancer. , 2001, Family practice.

[17]  W. Burke,et al.  Women's interest in genetic testing for breast cancer susceptibility may be based on unrealistic expectations. , 2001, American journal of medical genetics.

[18]  P. De Wals,et al.  Cost-Effectiveness of a Lottery for Increasing Physicians’ Responses to a Mail Survey , 2001, Evaluation & the health professions.

[19]  Stephanie L. Anderson.  FROM CHANCE TO CHOICE: GENETICS AND JUSTICE , 2001 .

[20]  D. L. Doyle,et al.  Public health needs assessment for state-based genetic services delivery , 2000 .

[21]  E. Thomson,et al.  Genetics and Public Health in the 21st Century , 2000 .

[22]  L. Leviton,et al.  Knowledge, Attitudes, and Behaviors of Alabama's Primary Care Physicians Regarding Cancer Genetics , 2000, Academic medicine : journal of the Association of American Medical Colleges.

[23]  N. Holtzman,et al.  Will genetics revolutionize medicine? , 2000, The New England journal of medicine.

[24]  J. Benkendorf,et al.  The gap between practice and genetics education of health professionals: HuGEM survey results , 2000, Genetics in Medicine.

[25]  H. G. Worthen.  Inherited cancer and the primary care physician , 1999, Cancer.

[26]  J. Emery,et al.  A systematic review of the literature exploring the role of primary care in genetic services. , 1999, Family practice.

[27]  H T Lynch,et al.  Genetic testing in families with hereditary nonpolyposis colon cancer. , 1999, JAMA.

[28]  C. Kenner,et al.  National coalition for health professional education in genetics. , 1998, AACN clinical issues.

[29]  M. Burgess,et al.  Genetic Secrets: Protecting Privacy and Confidentiality in the Genetic Era , 1998 .

[30]  K C Stange,et al.  The family in family practice: is it a reality? , 1998, The Journal of family practice.

[31]  K C Stange,et al.  Illuminating the 'black box'. A description of 4454 patient visits to 138 family physicians. , 1998, The Journal of family practice.

[32]  M. P. Eiff,et al.  Role of Primary Care Providers in the Delivery of Genetics Services , 1998, Public Health Genomics.

[33]  S. Narod,et al.  What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. , 1998, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

[34]  S. Pauker,et al.  Implications for clinical services in Britain and the United States , 1998 .

[35]  W. Burke,et al.  Breast carcinoma genetics from a primary care perspective , 1997 .

[36]  P. Tonin,et al.  A descriptive study of BRCA1 testing and reactions to disclosure of test results , 1997, Cancer.

[37]  G. Chance.  Family practice obstetrics. , 1995, Canadian family physician Medecin de famille canadien.

[38]  M. Spitz,et al.  Genetic susceptibility to cancer: ICRP Publication 79 , 1993, Cancer.

[39]  J. Zacharias,et al.  The new genetics. , 1990, Journal of obstetric, gynecologic, and neonatal nursing : JOGNN.

[40]  J. Weitzel,et al.  Outcomes from intensive training in genetic cancer risk counseling for clinicians , 2005, Genetics in Medicine.

[41]  Judith L. Johnson,et al.  Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project , 2005, Genetics in Medicine.

[42]  Muin J Khoury,et al.  Genetics and genomics in practice: The continuum from genetic disease to genetic information in health and disease , 2003, Genetics in Medicine.

[43]  Patricia Goodson,et al.  Barriers to the provision of genetic services by primary care physicians: A systematic review of the literature , 2003, Genetics in Medicine.

[44]  R. Gramling,et al.  Predictive genetics in primary care: Expectations for the motivational impact of genetic testing affects the importance family physicians place on screening for familial cancer risk , 2003, Genetics in Medicine.

[45]  G. Glendon,et al.  Genetic susceptibility to cancer. Family physicians' experience. , 2003, Canadian family physician Medecin de famille canadien.

[46]  S. Plon,et al.  Cancer genetics--survey of primary care physicians' attitudes and practices. , 1997, Journal of cancer education : the official journal of the American Association for Cancer Education.

[47]  N. Holtzman,et al.  Toward the 21st Century: Incorporating Genetics Into Primary Health Care , 1997 .

[48]  E. Juengst.  Ethics of prediction: genetic risk and the physician-patient relationship. , 1995, Genome science & technology.