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Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing

  • Original Research
  • Published:
Journal of Genetic Counseling

Abstract

The purpose of this study was to assess primary care physicians’ awareness, experience, opinions and preparedness to answer patients’ questions regarding direct-to-consumer (DTC) genetic testing. An anonymous survey was mailed to 2,402 family and internal medicine providers in North Carolina. Of the 382 respondents, 38.7% (n = 148) were aware of and 15% (n = 59) felt prepared to answer questions about DTC genetic tests. Respondents aged 50 or older were more likely to be aware of DTC genetic testing than those less than 40 years old (OR = 2.42). Male providers were more likely to feel prepared to answer questions than female providers (OR = 2.65). Among respondents who reportedly were aware, family practitioners were more likely than internists (OR = 3.30) to think DTC testing was clinically useful, and 18.9% had patients ask questions or bring in test results. The small percent of physicians who were aware of DTC genetic testing or felt prepared to answer questions about it suggests that education of providers will be necessary if testing becomes more widespread.

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Acknowledgements

Funding for this project has been provided in part from the National Society of Genetic Counselors’ Public Health Special Interest Group and the Graduate Student Association of the University of North Carolina at Greensboro. Thank you to Theresa Milhalik, MS for her assistance in survey distribution and data collection.

Author information

Authors and Affiliations

  1. Center for Biotechnology, Genomics & Health Research, The University of North Carolina at Greensboro, PO Box 26170, 1111 Spring Garden Street, Rm. 3702, Greensboro, NC, 27402-6170, USA

    Karen P. Powell, Carol A. Christianson & Vincent C. Henrich

  2. The Genetic Counseling Program, The University of North Carolina at Greensboro, Greensboro, NC, USA

    Whitney A. Cogswell & Sonja Eubanks

  3. Center for Social, Community and Health Research and Evaluation, The University of North Carolina at Greensboro, Greensboro, NC, USA

    Gaurav Dave & Amit Verma

Authors
  1. Karen P. Powell
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  2. Whitney A. Cogswell
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  3. Carol A. Christianson
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  4. Gaurav Dave
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  5. Amit Verma
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  6. Sonja Eubanks
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  7. Vincent C. Henrich
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Corresponding author

Correspondence to Karen P. Powell.

Appendix A: Survey Questions

Appendix A: Survey Questions

Awareness

Genetic tests that scan a person’s entire genetic makeup for potential health risks and are marketed directly to consumers are called direct-to-consumer (DTC) genetic tests. For the majority of this survey, we will use the term DTC genetic test to describe this service.

  1. 1)

    Genetic tests that scan a person’s entire genetic makeup for potential health risks are currently being marketed directly to consumers by several different companies (e.g., 23andMe, deCODEme, Navigenics). Have you heard or read about these genetic tests?

    1. a.

      Yes

    2. b.

      No → SKIP TO QUESTION 21

  2. 2)

    From which of the following sources did you hear or read anything about genetic tests that scan a person’s entire genetic makeup for potential health risks (e.g. tests marketed direct to consumers such as 23andMe, deCODEme, Navigenics)? Circle all that apply.

    1. a.

      Television

    2. b.

      Internet

    3. c.

      Professional organization

    4. d.

      Medical or scientific journal

    5. e.

      Patients

    6. f.

      Magazine article

    7. g.

      Newspaper article

    8. h.

      Health professional

    9. i.

      Radio

    10. j.

      Professional or scientific meeting

    11. k.

      Directly from a company selling DTC genetic testing

    12. l.

      Other, please specify:_________________________

Experiences with Patients

  1. 3)

    Have any patients ever asked questions about or brought in results from DTC genetic tests?

    1. a.

      Yes

    2. b.

      No → SKIP TO QUESTION 15

  2. 4)

    In the past year, how many of your patients asked questions about having a genetic test that scans a person’s entire genetic makeup for potential health risks (e.g., 23andMe, deCODEMe, Navigenics)?

    1. a.

      None→ SKIP TO QUESTION 7

    2. b.

      Please put number of patients: ________________

  3. 5)

    What percentage of your total patient population does this make up? Please circle one.

    1. a.

      1–10%

    2. b.

      11–20%

    3. c.

      21–30%

    4. d.

      31–50%

    5. e.

      51–75%

    6. f.

      >75%

  4. 6)

    Into which of the following categories would you put the questions your patients have asked you about DTC genetic testing? Circle all that apply.

    1. a.

      I have not had a patient ask questions about DTC genetic testing

    2. b.

      What you know about the (company/companies) that are offering the test

    3. c.

      What you know about the test(s)

    4. d.

      Whether you think the patient is at risk for a particular disease

    5. e.

      What you know about the benefits of testing

    6. f.

      How the test results may change your patient’s care

    7. g.

      What you would do in their situation

    8. h.

      Whether the cost is appropriate for the type of information they will obtain

    9. i.

      Other, please specify:________________________

  5. 7)

    In the past year, how many of your patients brought results from a genetic test that scans a person’s entire genetic makeup for potential health risks (e.g., 23andMe, deCODEMe, Navigenics) to you for discussion? Please circle one.

    1. a.

      None→ SKIP TO QUESTION 15

    2. b.

      Please put number of patients: ________________

  6. 8)

    What percentage of your total patient population does this make up? Please circle one.

    1. a.

      1–10%

    2. b.

      11–20%

    3. c.

      21–30%

    4. d.

      31–50%

    5. e.

      51–75%

    6. f.

      >75%

  7. 9)

    What condition(s) have your patients been tested for when they had DTC genetic testing? Circle all that apply.

    1. a.

      Autoimmune (Graves disease, lupus, psoriasis, rheumatoid arthritis, sarcoidosis, inflammatory bowel)

    2. b.

      Bone (osteoarthritis)

    3. c.

      Cancer (breast, lung, colon, stomach, melanoma, prostate)

    4. d.

      Cardiac (atrial fibrulation, heart attack, coronary artery disease)

    5. e.

      Endocrine (type 2 diabetes, type 1 diabetes, obesity)

    6. f.

      Eye (macular degeneration, glaucoma)

    7. g.

      GI (hemochromatosis, Celiac disease, Crohn’s disease, lactose intolerance)

    8. h.

      Neurologic (Alzheimer’s, multiple sclerosis, restless leg syndrome)

    9. i.

      Pharmacogenomic testing (Genotyping for Warfarin response, Tamoxifen response, Oncotype Dx, Psychiatric drug response)

    10. j.

      Single gene disorder (familial hypercholesterolemia, cystic fibrosis)

    11. k.

      Vascular (abdominal aneurysm, brain aneurysm, DVT)

    12. l.

      Not sure/Cannot remember

    13. m.

      Other, please specify:________________________

  8. 10)

    What company/companies did your patient/patients use? Circle all that apply.

    1. a.

      23 and Me

    2. b.

      DeCodeMe

    3. c.

      Navigenics

    4. d.

      DNA Direct

    5. e.

      I don’t know/I cannot remember

    6. f.

      Other, please specify _______________

Follow-up

  1. 11)

    Did you ever change any aspect of a patient’s care based solely on the results of his or her DTC genetic test? Please circle one.

    1. a.

      Yes

    2. b.

      No, because none of the tests indicated that a patient was at increased risk for disease→ SKIP TO QUESTION 15

    3. c.

      No—even though tests indicated that a patient was at increased risk for disease, because there were no evidence-based medical management guidelines to follow that would reduce their risk or prevent the disease → SKIP TO QUESTION 15

    4. d.

      No—for reasons other than those specified above, please explain __________________________ → SKIP TO QUESTION 15

  2. 12)

    For your patient(s) who brought the results from a genetic test that scanned the person’s entire genetic makeup for potential health risks (e.g., 23andMe, deCODEme and Navigenics) to discuss with you during an office visit during the past year, which aspects of your patient’s care did you change based on the results? Circle all that apply.

    1. a.

      Screening tests that you offered

    2. b.

      Medications or doses that you prescribed

    3. c.

      Lifestyle changes that you recommended

    4. d.

      Frequency of follow-up appointments scheduled

    5. e.

      Diagnoses that you made

    6. f.

      Not sure

    7. g.

      No aspects of patient care

    8. h.

      Other aspects of patient care, please specify: _______________________________

  3. 13)

    Did you refer any patient to a specialist based solely on the results of a DTC genetic test?

    1. a.

      Yes

    2. b.

      No → SKIP TO QUESTION 15

  4. 14)

    To whom did you make a referral? Circle all that apply.

    1. a.

      Genetic counselor

    2. b.

      Geneticist

    3. c.

      Cardiologist

    4. d.

      Oncologist

    5. e.

      Neurologist

    6. f.

      Endocrinologist

    7. g.

      Gastroenterologist

    8. h.

      Dietician

    9. i.

      Other, please specify: _____________________

Opinions

  1. 15)

    In general, do you think DTC genetic testing is currently clinically useful, meaning you would take a patient’s test results into consideration when formulating your medical management plan (e.g. when to refer for screening tests, when to refer to a specialist, etc.)?

    1. a.

      Yes → SKIP TO QUESTION 17

    2. b.

      No

  2. 16)

    If no, why do you feel DTC genetic testing is not clinically useful? Please, circle all that apply.

    AFTER ANSWERING THIS QUESTION, PLEASE SKIP TO QUESTION 19.

    1. a.

      It is too difficult to interpret what the results mean regarding patient care

    2. b.

      I would not change a patient’s management based on DTC testing

    3. c.

      It will cause more patient anxiety

    4. d.

      No guidelines exist to reduce or alleviate the risk for many diseases

    5. e.

      Other, please specify:________________________

  3. 17)

    If yes, how clinically useful do you feel DTC genetic testing currently is? Please circle one.

    1. a.

      Very useful

    2. b.

      Useful

    3. c.

      Somewhat useful

    4. d.

      Not useful

  4. 18)

    Which of the following do you see as a clinical benefit of DTC genetic testing? Circle all that apply.

    1. a.

      Offering screening tests (e.g. mammograms, colonoscopies, EKG) more frequently to individuals who are found to be at increased risk

    2. b.

      Offering screening tests (e.g. mammograms, colonoscopies, EKG) at an earlier age to individuals who are found to be at increased risk

    3. c.

      Changing medication doses

    4. d.

      Prescribing medication

    5. e.

      Recommending lifestyle changes

    6. f.

      Changing the frequency of follow-up appointments

    7. g.

      Making a diagnosis

    8. h.

      Providing genetic testing in a more private, confidential manner

    9. i.

      None of the above

    10. j.

      Other, please specify: _______________________

  5. 19)

    Which of the following concerns you about DTC genetic testing? Circle all that apply.

    1. a.

      I do not have any concerns about DTC genetic testing

    2. b.

      The analytical validity, or accuracy, of the test results is questionable

    3. c.

      The clinical utility, or ability to use the results in practice, is questionable

    4. d.

      Counseling provided by the companies following DTC genetic testing is nonexistent or inadequate

    5. e.

      Patients may interpret the results incorrectly

    6. f.

      Advertisements may mislead patients

    7. g.

      Results could lead to discrimination in employment

    8. h.

      Results could lead to discrimination in health insurance

    9. i.

      Genetic information may not be kept confidential by the DTC testing companies

    10. j.

      Results could increase patient anxiety

    11. k.

      Physicians may feel obligated to refer patients to specialists, perhaps unnecessarily

    12. l.

      Physicians may feel obligated to refer patients for follow-up procedures, perhaps unnecessarily

    13. m.

      Other, please specify: ______________________

  6. 20)

    If a patient were to bring the results from a genetic test that scanned the person’s entire genetic makeup for potential health risks (e.g., 23andMe, deCODEme and Navigenics) to discuss with you during an office visit today, how likely is it that the test results would influence your care of the patient? Please circle one.

    1. a.

      Very likely

    2. b.

      Likely

    3. c.

      Unlikely

    4. d.

      Very unlikely

Preparedness

  1. 21)

    Would/do you feel prepared to answer a patient’s questions about DTC genetic testing?

    1. a.

      Yes

    2. b.

      No

Background Information

  1. 22)

    What is your gender?

    1. a.

      Male

    2. b.

      Female

  2. 23)

    What is your age?

    1. a.

      <=30

    2. b.

      31–40

    3. c.

      41–50

    4. d.

      51–60

    5. e.

      >60

  3. 24)

    In which specialty were you boarded? Circle all that apply.

    1. a.

      Family medicine

    2. b.

      Internal medicine

    3. c.

      Pediatrics

    4. d.

      Geriatrics

    5. e.

      Other, please specify: _____________

  4. 25)

    How would you describe your work setting (if you have appointments at more than one setting, please answer these questions thinking of your primary institution)? Please circle one.

    1. a.

      Academic medical center or medical school

    2. b.

      Medical center not affiliated with a university

    3. c.

      Community hospital

    4. d.

      Private practice

    5. e.

      HMO

    6. f.

      Other, Please specify: _______________________

  5. 26)

    How many years have you been practicing as a physician? (please specify in whole years, rounding up to the nearest year) ______ years

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Powell, K.P., Cogswell, W.A., Christianson, C.A. et al. Primary Care Physicians’ Awareness, Experience and Opinions of Direct-to-Consumer Genetic Testing. J Genet Counsel 21, 113–126 (2012). https://doi.org/10.1007/s10897-011-9390-9

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