Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Respondent Characteristics
3.2. Education about Genomic Medicine & Experience with Genetic Medicine
3.3. Perception and Attitudes about DTC Testing
3.4. Perceived and Actual Knowledge of Key Concepts in Genetics and Genomics
3.5. Primary Care Physicians’ Personal Experience with Personal Genomic Testing
3.6. Impact of PGT on PCPs’ on Comfort/Confidence, Perceived Knowledge, Interest, and Perceived Value
4. Discussion
Author Contributions
Acknowledgments
Conflicts of Interest
Appendix A
- Age-Related Macular Degeneration
- Alpha-1 Antitrypsin Deficiency
- Celiac Disease
- Hereditary Hemochromatosis (HFE-Related)
- Hereditary Thrombophilia
- Late-Onset Alzheimer’s Disease
- Parkinson’s Disease
- ARSACS
- Agenesis of the Corpus Callosum with Peripheral Neuropathy
- Autosomal Recessive Polycystic Kidney Disease
- Beta Thalassemia and Related Hemoglobinopathies
- Bloom Syndrome
- Canavan Disease
- Congenital Disorder of Glycosylation Type 1a (PMM2-CDG)
- Cystic Fibrosis
- D-Bifunctional Protein Deficiency
- Dihydrolipoamide Dehydrogenase Deficiency
- Familial Dysautonomia
- Familial Hyperinsulinism (ABCC8-Related)
- Fanconi Anemia Group C
- GRACILE Syndrome
- Gaucher Disease Type 1
- Glycogen Storage Disease Type Ia
- Glycogen Storage Disease Type Ib
- Hereditary Fructose Intolerance
- Herlitz Junctional Epidermolysis Bullosa (LAMB3-Related)
- Leigh Syndrome, French Canadian Type
- Limb-Girdle Muscular Dystrophy Type 2D
- Limb-Girdle Muscular Dystrophy Type 2E
- Limb-Girdle Muscular Dystrophy Type 2I
- MCAD Deficiency
- Maple Syrup Urine Disease Type 1B
- Mucolipidosis Type IV
- Neuronal Ceroid Lipofuscinosis (CLN5-Related)
- Neuronal Ceroid Lipofuscinosis (PPT1-Related)
- Niemann-Pick Disease Type A
- Nijmegen Breakage Syndrome
- Nonsyndromic Hearing Loss and Deafness, DFNB1 (GJB2-Related)
- Pendred Syndrome and DFNB4 Hearing Loss (SLC26A4-Related)
- Phenylketonuria and Related Disorders
- Primary Hyperoxaluria Type 2
- Rhizomelic Chondrodysplasia Punctata Type 1
- Salla Disease
- Sickle Cell Anemia
- Sjögren-Larsson Syndrome
- Tay-Sachs Disease
- Tyrosinemia Type I
- Usher Syndrome Type 1F
- Usher Syndrome Type 3A
- Zellweger Syndrome Spectrum (PEX1-Related)
- Alcohol Flush Reaction
- Caffeine Consumption
- Deep Sleep
- Genetic Weight
- Lactose Intolerance
- Muscle Composition
- Saturated Fat and Weight
- Sleep Movement
- Asparagus Odor Detection
- Back Hair (available for men only)
- Bald Spot (available for men only)
- Bitter Taste
- Cheek Dimples
- Cleft Chin
- Earlobe Type
- Early Hair Loss (available for men only)
- Earwax Type
- Eye Color
- Finger Length Ratio
- Freckles
- Hair Thickness
- Light or Dark Hair
- Newborn Hair
- Photic Sneeze Reflex
- Red Hair
- Skin Pigmentation
- Sweet vs. Salty
- Toe Length Ratio
- Unibrow
- Widow’s Peak
- Ancestry Composition
- Your DNA Family
- Neanderthal Ancestry
- Maternal Haplogroup
- Paternal Haplogroup
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Characteristic | Completed both Baseline (pre-Testing) and Post-Testing Survey n = 130 |
---|---|
Family Practice | 82 (63.1%) |
Internal Medicine | 48 (36.9%) |
Male | 66 (50.8%) |
Race (select all that apply) | |
African-American | 5 (3.8%) |
Asian | 6 (4.6%) |
White | 113 (86.9%) |
Other/Multi-racial | 6 (4.6%) |
Hispanic/Latino | 12 (9.2%) |
Year of Medical School Graduation | |
Before 1981 | 10 (7.7%) |
1981–1990 | 36 (27.7%) |
1991–2000 | 41 (31.5%) |
2001 and later | 43 (33.1%) |
Practice Setting Type | |
Single provider practice | 13 (10.0%) |
Multi-provider practice | 101 (77.7%) |
Hospitalist | 8 (6.2%) |
Other | 8 (6.2%) |
Pre-Testing | Post-Testing | McNemar’s Chi-sq Test p-Value | |
---|---|---|---|
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 |
Attitude | Pre-Testing (Somewhat/Strongly Agree) n = 130 | Post-testing (Somewhat/Strongly Agree) n = 130 | McNemar Test of Independence (p-Value) |
---|---|---|---|
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% | p = 1.0 |
Some of my patients would be interested in DTC genetic testing | 86.0% | 84.5% | 0.81 |
Pharmaco-Genetics (n = 130) | Genetics of Complex Disease (n = 130) | GWAS (n = 130) | Basic Genetics Principles (n = 130) | When & How to Incorporate Genomic Information into Practice (n = 130) | |
---|---|---|---|---|---|
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 |
Question | Pre-Testing % Correctly Answered | Post-Testing % Correctly Answered |
---|---|---|
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% |
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% |
© 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
Share and Cite
Haga, S.B.; Kim, E.; Myers, R.A.; Ginsburg, G.S. Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing. J. Pers. Med. 2019, 9, 29. https://doi.org/10.3390/jpm9020029
Haga SB, Kim E, Myers RA, Ginsburg GS. Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing. Journal of Personalized Medicine. 2019; 9(2):29. https://doi.org/10.3390/jpm9020029
Chicago/Turabian StyleHaga, Susanne B., Esther Kim, Rachel A. Myers, and Geoffrey S. Ginsburg. 2019. "Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing" Journal of Personalized Medicine 9, no. 2: 29. https://doi.org/10.3390/jpm9020029
APA StyleHaga, S. B., Kim, E., Myers, R. A., & Ginsburg, G. S. (2019). Primary Care Physicians’ Knowledge, Attitudes, and Experience with Personal Genetic Testing. Journal of Personalized Medicine, 9(2), 29. https://doi.org/10.3390/jpm9020029