Back

Primary Care Providers' Perspectives on Receiving Tier 1 Genomic Results from a National Study- the Million Veteran Program Return of Actionable Results (MVP-ROAR) Study

Johannsen, A. L.; Danowski, M. E.; Sitter, K. E.; Preys, C. L.; Gerety, H. C.; Brunette, C. A.; Christensen, K. D.; Gaziano, J. M.; Knowles, J. W.; Muralidhar, S.; Sturm, A. C.; Sun, Y. V.; Whitbourne, S. B.; Yi, T.; the Million Veteran Program, ; Vassy, J. L.

2024-11-01 genetic and genomic medicine
10.1101/2024.10.29.24316065 medRxiv
Show abstract

BackgroundPatients are increasingly obtaining genetic health information and integrating it into their care with the help of their primary care provider (PCP). However, PCPs may not be adequately prepared to effectively utilize genetic results . Across the VA health system, the Million Veteran Program-Return of Actionable Results-Familial Hypercholesterolemia (MVP-ROAR) study clinically confirms and returns genetic results associated with familial hypercholesterolemia (FH), identified in a national biobank program. MethodsPCPs who received their patients genetic results through the MVP-ROAR Study were invited to participate in semi-structured interviews, which explored PCPs familiarity with FH, how the results impacted medical management, and suggestions for process improvement. Interviews were transcribed and analyzed using directed content analysis and constant comparison methods to identify key themes. ResultsInterviews with nine PCPs revealed varied levels of familiarity with genetic testing and FH. Most PCPs did not distinguish FH from common high cholesterol issues and already used similar treatment approaches. Many PCPs did not recall receiving results from the MVP-ROAR Study. Alerts in medical records were deemed effective for communicating results. PCPs valued genetics in informing patient care and identifying at-risk family members but noted several implementation barriers, such as additional workload and unclear medical management benefits. Recommendations for improving results disclosure included simplifying the genetic testing report and associated support documents. ConclusionThe study represents the first investigation into PCPs experiences with receiving genetic test results from a biobank linked to a national healthcare system. Results suggest that PCPs generally view genetic testing as beneficial, though they may not significantly alter medical management. PCPs expressed that integrating genetics into routine care may be burdensome and require additional training, which may not be practical. The study underscores the need for accessible genetic information, which could be aided by specialized support roles or different clinical specialties assisting with incorporating genetic results into patient care.

Matching journals

The top 5 journals account for 50% of the predicted probability mass.

1
Genetics in Medicine
78 papers in training set
Top 0.1%
26.9%
2
Genetics in Medicine Open
11 papers in training set
Top 0.1%
10.8%
3
European Journal of Human Genetics
58 papers in training set
Top 0.1%
6.3%
4
PLOS ONE
5266 papers in training set
Top 27%
5.6%
5
Journal of the American Medical Informatics Association
71 papers in training set
Top 0.6%
5.6%
50% of probability mass above
6
JAMA
18 papers in training set
Top 0.1%
3.2%
7
Journal of Personalized Medicine
28 papers in training set
Top 0.2%
2.8%
8
The American Journal of Human Genetics
234 papers in training set
Top 2%
2.1%
9
The Journal of Pediatrics
16 papers in training set
Top 0.2%
2.1%
10
Cureus
68 papers in training set
Top 2%
1.9%
11
JAMA Network Open
130 papers in training set
Top 2%
1.9%
12
Orphanet Journal of Rare Diseases
21 papers in training set
Top 0.3%
1.7%
13
Journal of the American Heart Association
140 papers in training set
Top 3%
1.1%
14
BMJ Open
601 papers in training set
Top 11%
1.1%
15
Human Genetics and Genomics Advances
84 papers in training set
Top 1%
1.1%
16
BMC Medical Genomics
50 papers in training set
Top 0.9%
1.1%
17
American Journal of Medical Genetics Part A
17 papers in training set
Top 0.2%
1.1%
18
Communications Medicine
113 papers in training set
Top 4%
1.1%
19
BMJ Health & Care Informatics
15 papers in training set
Top 0.8%
1.1%
20
Journal of Medical Genetics
29 papers in training set
Top 0.5%
1.0%
21
Genes
144 papers in training set
Top 3%
1.0%
22
eLife
5828 papers in training set
Top 64%
0.9%
23
Open Heart
21 papers in training set
Top 1%
0.9%
24
The Journal of Molecular Diagnostics
39 papers in training set
Top 0.6%
0.9%
25
JMIR Public Health and Surveillance
45 papers in training set
Top 2%
0.9%
26
BMJ Open Diabetes Research & Care
16 papers in training set
Top 0.5%
0.6%
27
Diagnostic Microbiology and Infectious Disease
22 papers in training set
Top 0.4%
0.6%
28
Pediatrics
11 papers in training set
Top 0.2%
0.6%