Table 1.

Evidence on barriers to integration

Authors, year, country	Objective	Study design	Methods/population studied	Findings and conclusions
Bell et al. (2015) USA	To compare effectiveness of an interactive web-based genetics curriculum to a text curriculum for primary care providers (PCPs)	Randomized controlled trial (RCT)	N = 121 California and Pennsylvania community physicians A web-based genetics curriculum with standardized patients administered	Around 55% of participants offered a genetic counseling referral, and about 44% recommended testing. The intervention group was more likely than the control to look into genetic counseling benefits and encourage it before testing.
Carroll et al. (2019) Canada	To determine family physicians’ involvement in genomic medicine, attitudes towards clinical value, suggestions for integration of genomic medicine into practice, and necessary resources and education	Cross-sectional	N = 361 family physicians An anonymous questionnaire mailed to a random sample of 2000 family physicians in Ontario, Canada	Family physicians lacked confidence in their genomic medicine-related skills but identified making referrals as their main contribution. Respondents stated that they were somewhat optimistic about the contribution genomic medicine may make to patient care. Educational resources and improved communication with genetic specialists were needed in primary care settings.
Harding et al. (2019) Canada	To explore genetics in primary care from the perspective of rural and urban primary care providers and to provide a foundation to develop genetics-related support strategies for primary care providers	Qualitative	Participants recruited using stratified purposeful sampling from rural and urban settings in Ontario, Canada Key informants included a health care administrator, clinical geneticist, nurse practitioner, public health administrator, two genetic counselors, and four PCPs Focus group conducted with PCPs	PCPs endorsed the importance of genetics in primary care but identified difficulty in providing timely genetic care. Despite efforts to expand genetics continuing education opportunities, PCPs must have the ability to assess genetic risk, provide a consistent level of genetic care and testing, and refer patients appropriately.
Hauser et al. (2018) USA	To generate insights for the sustainable adoption and dissemination of genomic medicine	Cross-sectional	N = 488 PCPs in community and academic practices in New York City 2014 to 2016; N = 15 participated in open-ended interviews Survey about views on genetic testing for chronic diseases	Most PCPs believed in clinical benefits of genetic testing for common chronic diseases. However, they expressed concerns about lacking the knowledge and skill to use genetics in their practices. Efforts to expand genetic testing should help identify common, actionable variants that increase chronic disease risk and should enhance PCP’s training and the use of electronic health records.
Kne et al. (2017) USA	To determine the rate of genetic counseling utilization by women at risk for hereditary breast and ovarian cancer (HBOC), barriers and support influencing services uptake, and possible strategies for increasing utilization	Cross-sectional	N = 603 screening mammography patients identified as being at increased risk for HBOC; at-risk women and their PCPs were mailed a referral letter for genetic counseling N = 24 participants in 3 focus groups	Barriers to utilizing genetic counseling services included perceiving counseling as not being highly relevant nor useful for the participants, a lack of knowledge about the genetic counseling process, concerns about complexity and emotional impact, and concerns about cost. The provision of educational resources for patients during the referral process and more emphasis on counseling’s importance from the PCP may help to address the under-utilization of cancer genetic counseling services.
Lopes-Junior et al. (2017) Brazil	To determine the level of genetic-related education, knowledge, and experiences among nurses and physicians who provide primary care in São Paulo	Cross-sectional	N = 24 physicians and 30 nurses Questionnaires administered	Roughly 85% of respondents stated that they received some genetic content during their undergraduate education. About 78% indicated that they did not feel prepared to deliver genomics-based health care in primary care. It was concluded that primary care nurses and physicians lack the knowledge to provide genomic-based health care.
McCahon et al. (2009) UK	To examine general practitioners’ attitudes towards the provision of genetic health services including familial risk assessment for common disorders in primary care settings	Cross-sectional	N = 797 general practitioners, recruited from a stratified, random sample of general practitioners in England extracted from the Midlands Practices Research Consortium database Survey collected	One-third of the respondents supported being involved in family history screening and familial risk assessment for commonly seen disorders. About one third did not feel sufficiently prepared. A substantial proportion were not willing to offer these services in primary care even with training. Main barriers that were noted to providing genetics services included a lack of training and proper guidelines.
Mikat-Stevens et al. (2015) USA	To review the literature to determine PCPs’ perceived barriers against the provision of genetics services in general	Systematic review	Articles from PubMed and ERIC published from 2001 to 2012 were obtained and assessed for relevance to the topics of interest	PCPs cited misperceptions, knowledge deficits, systems-level barriers to integrating genetics into practice (e.g., time constraints and lack of access), patient anxiety and fear of health insurance or social discrimination, the potential for loss of privacy for family members, and a lack of guidelines for the provision of genetic services as barriers.
Najafzadeh et al. (2013) USA and Canada	To examine physician perceptions about personalized medicine and the factors that influence decision-making in using genetic testing	Mixed methods	N = 28 physicians currently practicing in British Columbia participated in 3 semi-structured focus groups Qualitative data collected first, and then those data were quantitatively analyzed	The main concerns raised in the focus groups were access to clinical guidelines and training for the use of genetic testing and data interpretation. Despite the hurdles associated with personalized medicine, the physicians expressed strong interest in using genetic testing resources, pending that there would be sufficient access to the necessary knowledge and tools.
Otten et al. (2016a) Europe	To identify current availability and use of different telegenetics modalities in Europe by genetics professionals	Cross-sectional	N = 104 European genetics professionals Online survey conducted	Only 28% had access to telegenetics modalities. About 17% used telephone-based genetic counseling and around 9% used videoconferencing for patient counseling purposes. Cited barriers to access included lack of funds, professional support and/or knowledge, and need. Results indicated that telegenetics modalities were not widespread throughout Europe.
Paneque et al. (2016) Portugal, UK, and the Netherlands	To evaluate genetics educational interventions in the context of primary care to determine if there is a common theme to direct guidelines	Systematic review	Following the guidelines from the Centre for Reviews and Dissemination, five relevant electronic databases searched Results coded and categorized	Current literature is insufficient about how to inform educational interventions in genetics for PCPs. Educational initiatives should be assessed using changes in practice to determine if they would be effective in causing significant changes in practice in genetic risk assessment and appropriate management of patients.
Tarini et al. (2015) USA	To examine decisions of pediatricians and family physicians about a diagnostic evaluation for a child with suspected global developmental delay	Cross-sectional	N = 484 pediatricians and family physicians Online survey containing a clinical vignette about global developmental delay completed	Almost 75% of the respondents reported that their first step would be to refer the child without testing, 22% would test only, and 4% would both test and refer. Most physicians would refer to a developmental pediatrician first, and only 5% would refer to a geneticist. The most commonly ordered test was general biochemical testing. Few PCPs would order genetic testing or refer to a genetics specialist as a first evaluation step.
Wakefield et al. (2018) Australia	To examine: (1) frequency and depth of family cancer histories taken by providers, (2) barriers to regular family history-taking, and (3) provider confidence in discussing genetics related topics with childhood cancer survivors	Qualitative	N = 54 providers (8 tertiary center providers and 46 PCPs) across New Zealand and Australia Semi-structured interviews completed	While family history-taking is not sufficient to identify all survivors suitable for genetic assessment, recommendations for regular history-taking are not being implemented in tertiary or primary care. Additional primary care-targeted genetic education is necessary given their ability to review family histories of pediatric cancer survivors.