Table 2.

Characteristics of final full-text articles included.

Author	Year	Location	Methods	Population	Stated aim
Bernhardt	2011	Not stated: HHT Foundation based in USA	Mixed: 1. Surveys and 2. Online discussion groups	People from hereditary haemorrhagic telangiectasia families	To identify barriers to genetic testing for HHT with the intention of developing recommendations to address some of the identified barriers.
Boothe	2020	USA	Quantitative: Survey	Genetic counsellors (members of National Society of Genetic Counselors)	To characterise genetic counsellors’ perspectives regarding evaluation and implementation of service delivery models.
Bucio	2019	Mexico	Mixed: 1. quantitative text analysis and 2. follow up interviews	2. Key informants: professionals in education, clinicians, or laboratory scientists who trained and currently worked in a medical genetics-related capacity in Mexico	To describe the current state of genetic counselling services and potential need for genetic counselling as a separate profession in Mexico.
Burton	2010	UK	Quantitative: Survey	Heads of regional specialist genetic services	To investigate the equity of specialist provision in the UK and make recommendations for service development
Cohen	2016	USA	Qualitative: Interviews	Participants who previously participated in the internet survey administered by the NSGC SDMTF (Cohen et al. 2013)	To provide information regarding different service delivery models used in the practice of genetic counselling in the United States and to identify advantages and limitations of these models, as well as barriers to implementation.
Cohen	2013	USA	Quantitative: Survey	Genetic counsellors (members of National Society of Genetic Counselors)	To describe the current landscape of GC service delivery by surveying professional practice nationally.
Harding	2019	Southeastern Ontario, Canada	Qualitative: Interviews	Primary care providers (PCPs)	To explore genetics in primary care from the perspective of both rural and urban PCPs.
Harrison	2015	England, UK	Mixed: 1. Review of national audit data and 2. telephone survey	1. National audit data (all test requests and results (n = 1839) issued between 2003 and 2011)2. Lead contacts (14 consultants, 5 GCs and 1 specialist registrar) from the nine healthcare regions of the NHS in England	To identify and quantify the extent of current variation in service provision for a specialist genetic testing service in the English NHS, specifically inherited retinal dystrophy. To integrate quantitative findings with exemplars of current working practices and models of service delivery and funding.
Hawkins	2013	British Columbia, Canada	Qualitative: Interviews	People at risk of Huntington Disease (HD)	To understand and explore whether accessibility of Predictive Testing services is a barrier to testing, we conducted an interview study of individuals at risk for HD throughout BC. To understand the obstacles to testing in terms of the accessibility of services in Vancouver, as well as exploring the mechanisms by which this issue may be addressed
Holloway	2010	South East Scotland, UK	Quantitative: Secondary data analysis	Families referred to the South East Scotland Clinical Genetics Service	To make comparisons between the referral and attendance rates (and in particular the relationship of these rates to socio-economic status) of the families offered an appointment at the regional clinic and the families offered an appointment at one of the three satellite clinics.
Kaye	2020	USA	Mixed: 1. In person and telephone based ‘sessions’ 2. Survey	1. American College of Medical Genetics and Genomics members, Family Voices members, American Academy of Pediatrics Genetics workgroup, regional genetics collaboratives, public health genetics professionals, and consumer organizations2. Consumers, genetics professionals, public health, and primary care professionals	To outline structures for regional genetic services support centres that improve access to clinical genetic services
Penon-Portmann	2020	California, USA	Quantitative: Analysis of geographical data	Medical geneticists, biochemical medical geneticists, and genetic counsellors in the state of California	To assess the number of genetics providers and potential patterns in care, we examined the genetics workforce in California and the distances people travelled for in-person care. To investigate the potential impact of the workforce shortage on vulnerable sociodemographic populations in California
Qian	2019	USA and Malaysia	Quantitative: Survey	Families with rare diseases	To explore what areas of the current healthcare system are perceived as needing improvement by querying patients in genetics clinics.
Senier	2015	Wisconsin	Mixed: 1. Quantitative analysis of geographical data 2. Interviews	2. Healthcare providers and policymakers who were instrumental in founding, operating, or administering Wisconsin’s genetic outreach clinics	To examine one state’s experience sponsoring outreach clinics that provide clinical genetic services to improve access to specialty healthcare in underserved communities.
Shields	2010	UK	Quantitative: Referral to genetic testing/census data	People suspected to have maturity onset diabetes of the young	To examine the referral patterns in the UK for genetic testing for maturity onset diabetes of the young
Smith	2015	USA	Quantitative: Survey	Parents of children with special health care needs	To investigate whether access to genetic counselling improved over time and to examine the impact of child, family, and health system factors on access to genetic counselling.
Terry	2019	USA	Quantitative: Survey	Programmes delivering genetics by telegenetics	To comprehensively describe of the current regional telegenetics landscape
Triebold	2020	USA	Quantitative: Mapping of geographical data	Certified genetic counsellors (CGCs)	To map the distribution of all CGCs (patient-facing and non-patient-facing) across the nation at county level and assessed the number of CGCs per capita in U.S. metropolitan statistical areas.
Vieira	2013	Brazil	Quantitative: Survey	Survey completed by clinical geneticists in relation to people with/suspected to have 22q11.2 deletion	To investigated some critical aspects of access to genetic testing in different services and concentrated the laboratorial diagnosis of patients with palatal abnormalities and suspicion of 22q11.2 DS sent from those genetic centres, which participated voluntarily in the study.
Villegas	2019	USA	Quantitative: Geospatial analysis	Genetic counsellors	To examine the availability of genetic counsellors working in the Southern U.S. and the demographics in areas with and without practicing Certified Genetic Counsellors.