| Literature DB >> 31137623 |
Susanne B Haga1, Esther Kim2, Rachel A Myers3, Geoffrey S Ginsburg4.
Abstract
Primary care providers (PCPs) will play an important role in precision medicine. However, their lack of training and knowledge about genetics and genomics may limit their ability to advise patients or interpret or utilize test results. We evaluated PCPs' awareness of the role of genetics/genomics in health, knowledge about key concepts in genomic medicine, perception/attitudes towards direct-to-consumer (DTC) genetic testing, and their level of confidence/comfort in discussing testing with patients prior to and after undergoing DTC testing through the 23andMe Health + Ancestry Service. A total of 130 PCPs completed the study. Sixty-three percent were board-certified in family practice, 32% graduated between 1991 and 2000, and 88% had heard of 23andMe prior to the study. Seventy-two percent decided to participate in the study to gain a better understanding about testing. At baseline, 23% of respondents indicated comfort discussing genetics as a risk factor for common diseases, increasing to 59% after undergoing personal genetic testing (PGT) (p < 0.01). In summary, we find that undergoing PGT augments physicians' confidence, comfort, and interest in DTC testing.Entities:
Keywords: education; genomics; primary care
Year: 2019 PMID: 31137623 PMCID: PMC6617198 DOI: 10.3390/jpm9020029
Source DB: PubMed Journal: J Pers Med ISSN: 2075-4426
Characteristics of study respondents.
| Characteristic | Completed both Baseline (pre-Testing) and Post-Testing Survey |
|---|---|
| Family Practice | 82 (63.1%) |
| Internal Medicine | 48 (36.9%) |
| Male | 66 (50.8%) |
|
| |
| African-American | 5 (3.8%) |
| Asian | 6 (4.6%) |
| White | 113 (86.9%) |
| Other/Multi-racial | 6 (4.6%) |
| Hispanic/Latino | 12 (9.2%) |
|
| |
| Before 1981 | 10 (7.7%) |
| 1981–1990 | 36 (27.7%) |
| 1991–2000 | 41 (31.5%) |
| 2001 and later | 43 (33.1%) |
|
| |
| Single provider practice | 13 (10.0%) |
| Multi-provider practice | 101 (77.7%) |
| Hospitalist | 8 (6.2%) |
| Other | 8 (6.2%) |
Percentage of respondents who indicated 4 or 5 on a 5-point Scale (1 = least comfortable; 5 = most comfortable) regarding comfort level in discussing various types of risk factors for common disease with patients (n = 130).
| Pre-Testing | Post-Testing | McNemar’s Chi-sq Test | |
|---|---|---|---|
| Genetics | 23.1% | 58.9% | <0.000001 |
| Environmental | 91.5% | 94.6% | 0.39 |
| Race/ethnicity | 61.5% | 73.8% | 0.02 |
| Health Status | 88.5% | 95.4% | 0.04 |
Percentage of responses in agreement (strongly or somewhat agree) with statements about the use of direct-to-consumer (DTC) genetic testing, physician preparedness, and patient interest (n = 130).
| Attitude | Pre-Testing (Somewhat/Strongly Agree) | Post-testing (Somewhat/Strongly Agree) | McNemar Test of Independence ( |
|---|---|---|---|
| I understand the limitations, risks and benefits of using DTC testing services | 43.9% | 83.7% | <0.01 |
| I have enough knowledge to help patients understand the results of DTC genetic tests | 26.9% | 73.1% | <0.01 |
| I feel confident about discussing DTC genetic testing with my patients. | 20.0% | 70.7% | <0.01 |
| Most physicians have sufficient knowledge to help patients understand the results of DTC genetic tests | 12.3% | 46.9% | <0.01 |
| If a patient of mine inquired about DTC testing, I would likely recommend that they consider it. | 33.8% | 62.3% | <0.01 |
| Most of my patients could understand their DTC genetic test results. | 9.3% | 37.5% | <0.01 |
| DTC genetic testing will likely play an important role in my practice | 31.0% | 30.0% | |
| Some of my patients would be interested in DTC genetic testing | 86.0% | 84.5% | 0.81 |
Perceived knowledge at pre-testing phase among respondents who completed the pre-testing and post-testing survey (n = 130).
| Pharmaco-Genetics ( | Genetics of Complex Disease ( | GWAS ( | Basic Genetics Principles ( | When & How to Incorporate Genomic Information into Practice ( | |
|---|---|---|---|---|---|
| No knowledge | 7.7% | 6.9% | 52.3% | 0.8% | 10.0% |
| Minimal | 53.8% | 48.5% | 40.0% | 9.2% | 51.5% |
| Moderate | 30.8% | 39.2% | 6.9% | 58.5% | 33.8% |
| Above Average | 7.7% | 5.4% | 0.8% | 29.2% | 4.6% |
| Expert | 0 | 0 | 0 | 2.3% | 0 |
Factual knowledge among respondents who completed the pre and post-testing survey (n = 130).
| Question | Pre-Testing | Post-Testing |
|---|---|---|
| The DNA sequences of two randomly selected healthy individuals of the same sex are 90–95% identical. (FALSE) | 31.5% | 32.3% |
| Most common diseases, such as diabetes and heart disease, are caused by a single gene variant. (FALSE) | 96.2% | 97.0% |
| All the genetic variation in an individual can be attributed to either spontaneous (i.e., de novo) or inherited changes in the human genome. (TRUE) | 63.6% | 61.2% |
| Individual genetic variants are usually highly predictive of the manifestation of common disease. (FALSE) | 77.7% | 76.2% |
| Prevalence of many Mendelian diseases differs by racial groups. (TRUE) | 86.0% | 85.4% |
| A patient who is found to be at increased genetic risk can reduce or modify their overall disease risk with changes to their health management, treatment, or lifestyle. (TRUE) | 97.0% | 99.2% |
23andMe reports accessed by respondents.
| Type of 23andMe Reports | PCPs Who Reviewed Their 23andMe Reports | % |
|---|---|---|
| Ancestry (5 reports were available) | 125 | 96.2% |
| Health Predisposition-Genetic Health Risk (7 reports were available) | 116 | 89.2% |
| Carrier Status (43 reports were available) | 115 | 88.5% |
| Traits (22 reports were available) | 104 | 80.0% |
| Wellness (8 reports were available) | 100 | 76.9% |
| “I do not recall which sections I reviewed” | 1 | 0.77% |
| Did not review any reports | 2 | 1.5% |