Primary Care Physicians’ Experience and Confidence with Genetic Testing and Perceived Barriers to Genomic Medicine

Research Article

J Fam Med. 2015;2(2): 1024.

Primary Care Physicians’ Experience and Confidence with Genetic Testing and Perceived Barriers to Genomic Medicine

Chambers CV¹*, Axell-House DB², Mills G¹,Bittner-Fagan H³, Rosenthal MP³, Johnson M4 and Stello B4

¹Department of Family and Community Medicine, Thomas Jefferson University, USA

²Sidney Kimmel Medical College at Thomas Jefferson University, USA

³Department of Family and Community Medicine, Christiana Care Health System, USA

4Department of Family Medicine, Lehigh Valley Hospital and Health Network, Allentown, Pennsylvania, USA

*Corresponding author: Chambers CV, Department of Family and Community Medicine, Thomas Jefferson University, USA

Received: March 03, 2015; Accepted: March 31, 2015; Published: April 01, 2015


Purpose: Genetic testing is progressing towards use of patients’ genomes for personalized medicine. Primary care physicians (PCPs) may use genetic tests to screen and assess risk. However, PCPs’ current preparedness for the expanding integration of genetics into practice is uncharacterized. We examined primary care physicians’ perceptions of and experience with genetic testing.

Methods: An anonymous survey was mailed to PCPs across three regional health networks querying opinions of, experience with, confidence in, and perceived barriers to genetic testing.

Results: The survey response rate was 37.8%. Respondents believed learning about new genetic advances was important to clinical practice (67.0%). A minority (19.0%) had ordered genetic testing in six months, with cancer risk testing the most frequently ordered. Respondents were not confident in the skills required for using genetic testing in practice. Few respondents felt that they had time to counsel about genetic risk (9.5%) or that most patients could comprehend the concept of risk (27.0%).

Conclusions: Primary care physicians had a high opinion of using genetic testing in medicine, but reported little experience or confidence incorporating genetic testing into practice. A majority perceived time constraints and patient comprehension as barriers. These data demonstrate a need for genetics educational resources for physicians and patients.

Keywords: Genetics; Primary care; Family medicine; Personalized medicine; Genomics


PCP: Primary Care Physician; DTC: Direct to Consumer


From the completion of the Human Genome Project in 2003 to the recently mandated withdrawal of the genome screening products of 23 and Me™ (Mountain View, California) there has been exponential development in health-related genomic information [1]. A glimpse of the potential benefit of genomic information in healthcare has been realized in targeted chemotherapy [2], tailored warfarin therapy [3], diagnosis of Mendelian disease [4], and expanded newborn screening [5]. These successes have heralded the development of “personalized medicine,” which incorporates a patient’s unique genomic make-up into individualization of disease prevention and treatment

Genomic science is developing rapidly, but much of basic science research remains too ambiguous to translate to clinical medicine. At the benchtop, DNA sequencing is still too inaccurate to use on a large scale, and once a DNA sequence is completed, the significance of each discovered variant is still largely unknown [6]. Despite these barriers, the public’s interest in genetics fueled the development of companies like 23 and Me™, a company that provided Direct-to-Consumer (DTC) genetic tests. In November, 2014, the FDA suspended the company’s health-related genetic reporting services due to lack of validation of the genetic tests and their uses [7], but the possibility of new companies arising remains.

Primary Care Physicians (PCPs) play a unique role in medical genetics in that they will likely be the first providers to assess patient need for genetic testing [8]. PCPs are also the most likely physicians to be presented with DTC test results given their longterm relationships with patients [9-10]. PCPs have been anticipating the clinical impact of genetic tests in their practice since before the completion of the Human Genome Project [11]. Since then, many PCPs overall continue to note that they lack confidence, knowledge, and experience with genetic tests despite their anticipation [12-14]. These PCPs identified a need for increased education for themselves to reliably interpret test results [15-20], access to genetic counselors for referral [21], and increased education for the public to prevent anxiety and misinterpretations of results [22-23]. Further, they identified that ethical controversy exists over incidental findings, informed consent, and the ever-changing nature of genetic knowledge [24-27].

In 15 years of study into this area, primary care providers have reported that they perceive themselves deficient in assimilating the skills that they feel are necessary to participate in genomics medicine. The purpose of our study was to determine whether PCPs have improved in experience, confidence, and ability to order genetic testing since the recent surge of clinically relevant tests and wellpublicized rise and fall of affordable DTC genetic tests.


Survey population and recruitment

Three regional networks of PCPs in the Delaware Valley participated in the study: 1) Jeff Care, an organization of PCPs affiliated with Thomas Jefferson University; 2) the Lehigh Valley Health Network, including its Practice-Based Research Network; and 3) the Christiana Care Health System and the Delaware Academy of Family Physicians.

Physicians were invited to participate in January, 2013. A postcard with the investigators’ signatures and respective health system logos was mailed to every provider within the three networks to request his or her participation. Two weeks later, a packet was mailed containing a cover letter describing the project in detail, a link to an online version of the survey, a printed copy of the survey, a stamped and addressed return envelope, and a $5 gift card as remuneration for their time. The providers were informed that their surveys would remain anonymous. Consequently, non-responders were not identifiable and no follow-up emails or letters were sent.

Survey design

Investigators created a novel survey through an iterative process consisting of 20 questions, 5 of which had multiple sub-questions for a total of 50 answerable units. Thirty-four questions used a Likert scale, five were dichotomous (yes/no), six had multiple choices, three were “check-all-that-apply,” and two were free text. All “checkall- that-apply” questions also included an “other” option with an accompanying free text box for description. The survey allowed participants to skip questions.

The survey consisted of five informal sections: 1) Demographic and practice information; 2) Opinions regarding genetic testing; 3) Experience with genetic testing; 4) Confidence in tasks in evaluating and managing genetic disease; and 5) Perceived barriers to implementing genomic medicine.

Funding and approval

The study was funded through an internal grant through the Dean’s Office of Sidney Kimmel Medical College. The study was reviewed and approved by the Institutional Review Boards representing each of the participating health networks.

Data analysis

Survey data were entered into Excel for analysis. Personal characteristics were described as frequencies and percentages. The personal characteristics included age, gender (male, female), practice type (academic/private, rural/suburban/urban), specialty (family medicine, internal medicine, other), affiliation (Jeff Care, LVHN, CCHS/DAFP), and Electronic Medical Record (EMR) use.

Data were evaluated by descriptive statistics and comparisons of categorical responses from different groups were made using 2x2 contingency tables and Fisher’s two-tailed exact test. Descriptive statistics include non-responder rates.


Survey response

A total of 833 postcards/surveys were sent to PCPs within the three networks. Of these, 315 surveys were returned resulting in an overall response rate of 37.8%. Less than a quarter (23.2%) of responders wrote free text box answers, which were mostly used to further describe their practices and did not contribute to the results.


Slightly more than half of the respondents were male (54.1%) or between the ages of 45 and 64 (53.5%). Regarding specialty, 65.8% were family medicine physicians, 22.6% were internal medicine physicians, with 11.6% reporting other specialties including pediatrics, emergency medicine, geriatrics, and palliative care. Additional respondent demographic characteristics are listed in Table 1.