Differential Use of Available Genetic Tests among Primary Care Physicians in the U.S.: Results of a National Survey

Harvard/MGH Center on Genomics, Vulnerable Populations, and Health Disparities, Massachusetts General Hospital/Partners HealthCare, Boston, Massachusetts, USA.
Genetics in medicine: official journal of the American College of Medical Genetics (Impact Factor: 7.33). 07/2008; 10(6):404-14. DOI: 10.1097/GIM.0b013e3181770184
Source: PubMed


This study assesses primary care physicians' experience ordering and referring patients for genetic testing, and whether minority-serving physicians are less likely than those serving fewer minorities to offer such services.
Survey of a random sample of 2000 primary care physicians in the United States (n = 1120, 62.3% response rate based on eligible respondents) conducted in 2002 to assess what proportion have (1) ever ordered a genetic test in general or for select conditions; (2) ever referred a patient for genetic testing to a genetics center or counselor, a specialist, a clinical research trial, or to any site of care.
Nationally, 60% of primary care physicians have ordered a genetic test and 74% have referred a patient for genetic testing. Approximately 62% of physicians have referred a patient for genetic testing to a genetics center/counselor or to a specialist, and 17% to a clinical trial. Minority-serving physicians were significantly less likely to have ever ordered a genetic test for breast cancer, colorectal cancer, or Huntington disease, or to have ever referred a patient for genetic testing relative to those serving fewer minorities.
Reduced utilization of genetic tests/referrals among minority-serving physicians emphasizes the importance of tracking the diffusion of genomic medicine and assessing the potential impact on health disparities.

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Available from: Douglas E Levy, Jul 25, 2014
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    • "Despite this, several surveys performed in the U.S., Europe and Canada show that doctors are not prepared for the increasing use of genetics in clinical care (Acton et al., 2000; Batra et al., 2002; Bellcross et al., 2011; Bethea et al., 2008; Burke et al., 2009; Carroll et al., 2008; Escher and Sappino, 2000; Freedman et al., 2003; Klitzman et al., 2012; Mehnert et al., 2003; Nippert et al., 2011; Pichert et al., 2003; Sabatino et al., 2007; Shields et al., 2008; Sifri et al., 2003; Toiviainen and Hemminki, 2001; Trivers et al., 2011; Van Riel et al., 2010; Welkenhuysen and Evers-Kiebooms, 2002; White et al., 2008; Wideroff et al., 2003; Wideroff et al., 2005; Wilkins-Haug et al., 2000). Many physicians do not have any specific education and the vast majority does not feel they have the needed training and knowledge for the appropriate use of genetic testing to guide prevention or treatment decisions (Anon, 2011; Feero and Green, 2011). "
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    ABSTRACT: Genetic testing for cancer susceptibility is an emerging technology in medicine. This study assessed the knowledge, attitudes and professional behavior of Italian physicians regarding the use of predictive genetic tests for breast and colorectal cancer, including the BRCA1/2 and APC tests. A cross-sectional survey of a random sample of Italian physicians was performed in 2010 through a self-administered questionnaire. A response rate of 69.6% (1,079 questionnaires) was achieved. A significant lack of knowledge was detected, particularly for APC testing. Less than half of the physicians agreed on the importance of efficacy and cost-effectiveness evidence in the selection of predictive genetic tests to be offered to the patients. Multiple logistic regression analyses showed that education had a positive influence on knowledge, attitudes and, to a lesser extent, professional use. The factor most strongly related to the physicians' use of genetic testing was patients requests for breast (OR=12.65; 95% CI 7.77-20.59) or colorectal cancer tests (OR=7.02; 95% CI 3.61-13.64). A high level of interest for specific training was reported by almost all physicians surveyed. Targeted educational programs are needed to improve the expertise of physicians, and, ultimately, to enhance the appropriate use of genetic tests in clinical practice.
    Preventive Medicine 07/2013; 57(5). DOI:10.1016/j.ypmed.2013.06.022 · 3.09 Impact Factor
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    • "An earlier American study showed major differences in genetic services offered to consanguineous couples by clinical geneticists and genetic counselors [13]. Moreover, the total number of genetic counseling consultations for people from migrant populations is generally low [14,15]. It is suggested that lack of genetic knowledge as well as racialized and stereotypical perspectives of health care professionals are contributing to these low numbers [16]. "
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    ABSTRACT: Background It is often suggested that an effort must be made to increase awareness among consanguineous couples of their reproductive risk, and to refer them for genetic counseling if needed. Primary care professionals are considered most appropriate for addressing the subject and identifying couples at risk during consultations in their practice. This Dutch study aims to explore the experiences, attitudes and beliefs of such professionals regarding their care for consanguineous couples. Methods Sixteen semi-structured interviews were conducted with midwives and general practitioners. Results Although most primary care professionals considered it their task to inform couples about the risks of consanguinity, during consultations the topic was generally only briefly touched upon and quickly abandoned. Important reasons for this were professionals’ beliefs about religious and social values of couples, their low perception of the couples’ reproductive risk and expected limited feasibility of referral. Feelings of embarrassment regarding addressing consanguinity did not seem to play a significant role. Conclusions Primary care professional beliefs about their clients’ religious and social values, their attitudes toward the risk, and perceived limited options for referral seem to conflict with the professional norm to address the topic of consanguinity.
    BMC Family Practice 10/2012; 13(1):105. DOI:10.1186/1471-2296-13-105 · 1.67 Impact Factor
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    • "They would therefore be more likely to seek genetic counselling or ask their GP for a referral. Additionally, different cultural values concerning genetics might explain fewer requests for counselling and physicians might assume that patients from other than Caucasian ethnicities would not be interested (Shields et al. 2008). Also, similarities in counselees' information needs have been found. "
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    ABSTRACT: Counselees from different countries may differ in demographic and medical characteristics and this could affect their pre-counselling cognitions and psychosocial variables. Research outcomes may therefore not be easily transferable between countries. To examine this, a cross-national comparison of UK (West Midlands: WM) and Dutch (Middle Netherlands: MN) counselees in breast cancer genetic counselling was conducted. Two hundred thirty-eight WM and 156 MN proband counselees were compared on demographics, breast cancer history and referral pathways. Multivariate logistic regression analyses were performed to check whether national differences in knowledge of breast cancer and heredity, risk perception, worry and information needs persisted when corrected for the background characteristics. About half of the Dutch compared to 8% of UK counselees were affected by breast cancer. More UK than Dutch counselees were at high risk from hereditary breast cancer. UK counselees had higher risk perceptions and more knowledge about breast cancer prevalence, but these differences lost significance when corrected for counselees' risk levels and other background characteristics. Counselees from the UK might report higher levels of worry than Dutch counselees and this could not be explained by their background characteristics. Comparisons of findings between the UK and the Netherlands show that the UK seems to have a higher percentage of high-risk referrals and these counselees seem to have higher risk perceptions. Irrespective of their actual risk level, UK counselees might be more worried. Comparing findings between the different countries raises questions about how transferable research findings are from one culture to another.
    Journal of community genetics 12/2011; 2(4):233-47. DOI:10.1007/s12687-011-0061-1
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