Initiatives to Scale Up and Expand Reach of Cancer Genomic Services Outside of Specialty Clinical Settings: A Systematic Review

Published:November 07, 2020DOI:


      This systematic review aims to (1) characterize strategies used to identify individuals at increased risk for hereditary breast and ovarian cancer syndrome and Lynch syndrome outside of oncology and clinical genetic settings, (2) describe the extent to which these strategies have extended the reach of genetic services to underserved target populations, and (3) summarize indicators of the potential scalability of these strategies.

      Evidence acquisition

      Investigators searched PubMed, EMBASE, and PsycINFO for manuscripts published from October 2005 to August 2019. Eligible manuscripts were those published in English, those that described strategies to identify those at risk for hereditary breast and ovarian cancer syndrome or Lynch syndrome, those implemented outside of an oncology or genetic specialty clinic, and those that included measures of cancer genetic services uptake. This study assessed strategies used to increase the reach of genetic risk screening and counseling services. Each study was evaluated using the 16-item quality assessment tool, and results were reported according to the PRISMA guidelines.

      Evidence synthesis

      Of the 16 eligible studies, 11 were conducted in clinical settings and 5 in public health settings. Regardless of setting, most (63%, 10/16) used brief screening tools to identify people with a family history suggestive of hereditary breast and ovarian cancer syndrome or Lynch syndrome. When reported, genetic risk screening reach (range =11%–100%) and genetic counseling reach (range =11%–100%) varied widely across studies. Strategies implemented in public health settings appeared to be more successful (median counseling reach=65%) than those implemented in clinical settings (median counseling reach=26%). Most studies did not describe fundamental components relevant for broad scalability.


      Efforts to expand cancer genomic services are limited outside of traditional oncology and genetic clinics. This is a missed opportunity because evidence thus far suggests that these efforts can be successful in expanding the reach of genetic services with the potential to reduce health inequities in access. This review highlights the need for accelerating research that applies evidence-based implementation strategies and frameworks along with process evaluation to understand barriers and facilitators to scalability of strategies with high reach.
      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to American Journal of Preventive Medicine
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Working Group
        Recommendations from the EGAPP working group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives.
        Genet Med. 2009; 11: 35-41
        • Nelson HD
        • Pappas M
        • Cantor A
        • Haney E
        • Holmes R
        Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: updated evidence report and systematic review for the U.S. Preventive Services Task Force.
        JAMA. 2019; 322: 666-685
        • Modell SM
        • Greendale K
        • Citrin T
        • Kardia SL
        Expert and advocacy group consensus findings on the horizon of public health genetic testing.
        Healthcare (Basel). 2016; 4: 14
        • Healthy People 2020: genomics
        Office of Disease Prevention and Health Promotion.
        2020 (Updated August 10. Accessed September 22, 2020)
        • Petrucelli N
        • Daly MB
        • Pal T
        • et al.
        BRCA1- and BRCA2-associated hereditary breast and ovarian cancer.
        in: Adam MP Ardinger HH Pagon RA GeneReviews® [Internet]. University of Washington, Seattle, Seattle, WA2016
        Date accessed: September 22, 2020
        • Kohlmann W
        • Gruber SB
        • et al.
        Lynch syndrome.
        in: Adam MP Ardinger HH Pagon RA GeneReviews® [Internet]. University of Washington, Seattle, Seattle, WA2018
        Date accessed: September 22, 2020
        • Drescher CW
        • Beatty JD
        • Resta R
        • et al.
        The effect of referral for genetic counseling on genetic testing and surgical prevention in women at high risk for ovarian cancer: results from a randomized controlled trial.
        Cancer. 2016; 122: 3509-3518
        • Powell CB
        • Littell R
        • Hoodfar E
        • Sinclair F
        • Pressman A
        Does the diagnosis of breast or ovarian cancer trigger referral to genetic counseling?.
        Int J Gynecol Cancer. 2013; 23: 431-436
        • Wright JD
        • Chen L
        • Tergas AI
        • et al.
        Underuse of BRCA testing in patients with breast and ovarian cancer.
        Am J Obstet Gynecol. 2016; 214: 761-763
        • Hampel H
        • Frankel WL
        • Martin E
        • et al.
        Feasibility of screening for Lynch syndrome among patients with colorectal cancer.
        J Clin Oncol. 2008; 26: 5783-5788
        • Morrison J
        • Bronner M
        • Leach BH
        • Downs-Kelly E
        • Goldblum JR
        • Liu X
        Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: from the revised Bethesda guidelines to a universal approach.
        Scand J Gastroenterol. 2011; 46: 1340-1348
        • Tranø G
        • Sjursen W
        • Wasmuth HH
        • Hofsli E
        • Vatten LJ
        Performance of clinical guidelines compared with molecular tumour screening methods in identifying possible Lynch syndrome among colorectal cancer patients: a Norwegian population-based study.
        Br J Cancer. 2010; 102: 482-488
        • van Lier MG
        • Leenen CH
        • Wagner A
        • et al.
        Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.
        J Pathol. 2012; 226: 764-774
        • Khoury MJ
        • Bowen MS
        • Clyne M
        • et al.
        From public health genomics to precision public health: a 20-year journey.
        Genet Med. 2018; 20: 574-582
        • Dheensa S
        • Lucassen A
        • Fenwick A
        Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals.
        J Genet Couns. 2018; 27: 689-701
        • Pozzar RA
        • Berry DL.
        Patient-centered research priorities in ovarian cancer: a systematic review of potential determinants of guideline care.
        Gynecol Oncol. 2017; 147: 714-722
        • Williams CD
        • Bullard AJ
        • O'Leary M
        • Thomas R
        • 4th Redding TS
        • Goldstein K
        Racial/ethnic disparities in BRCA counseling and testing: a narrative review.
        J Racial Ethn Health Disparities. 2019; 6: 570-583
        • Roberts MC
        • Kennedy AE
        • Chambers DA
        • Khoury MJ
        The current state of implementation science in genomic medicine: opportunities for improvement.
        Genet Med. 2017; 19: 858-863
        • Roberts MC
        • Dotson WD
        • DeVore CS
        • et al.
        Delivery of cascade screening for hereditary conditions: a scoping review of the literature.
        Health Aff (Millwood). 2018; 37: 801-808
        • Glasgow RE
        • Vogt TM
        • Boles SM
        Evaluating the public health impact of health promotion interventions: the RE-AIM framework.
        Am J Public Health. 1999; 89: 1322-1327
        • Proctor E
        • Silmere H
        • Raghavan R
        • et al.
        Outcomes for implementation research: conceptual distinctions, measurement challenges, and research agenda.
        Adm Policy Ment Health. 2011; 38: 65-76
        • Milat AJ
        • King L
        • Bauman AE
        • Redman S
        The concept of scalability: increasing the scale and potential adoption of health promotion interventions into policy and practice.
        Health Promot Int. 2013; 28: 285-298
        • U.S. Preventive Services Task Force
        Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: recommendation statement.
        Ann Intern Med. 2005; 143: 355-361
        • Moher D
        • Liberati A
        • Tetzlaff J
        • Altman DG
        • PRISMA Group
        Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement.
        PLoS Med. 2009; 6e1000097
        • Liberati A
        • Altman DG
        • Tetzlaff J
        • et al.
        The PRISMA statement for reporting systematic reviews and meta-analyses of studies that evaluate health care interventions: explanation and elaboration.
        Ann Intern Med. 2009; 151: W65-W94
        • Sirriyeh R
        • Lawton R
        • Gardner P
        • Armitage G
        Reviewing studies with diverse designs: the development and evaluation of a new tool.
        J Eval Clin Pract. 2012; 18: 746-752
        • Greenhalgh T
        • Robert G
        • Macfarlane F
        • Bate P
        • Kyriakidou O
        • Peacock R
        Storylines of research in diffusion of innovation: a meta-narrative approach to systematic review.
        Soc Sci Med. 2005; 61: 417-430
        • Lee R
        • Beattie M
        • Crawford B
        • et al.
        Recruitment, genetic counseling, and BRCA testing for underserved women at a public hospital.
        Genet Test. 2005; 9: 306-312
        • Seymour IJ
        • Casadei S
        • Zampiga V
        • et al.
        Results of a population-based screening for hereditary breast cancer in a region of North-Central Italy: contribution of BRCA1/2 germ-line mutations.
        Breast Cancer Res Treat. 2008; 112: 343-349
        • Lowery JT
        • Axell L
        • Vu K
        • Rycroft R
        A novel approach to increase awareness about hereditary colon cancer using a state cancer registry.
        Genet Med. 2010; 12: 721-725
        • Vanags A
        • Strumfa I
        • Gardovskis A
        • et al.
        Population screening for hereditary and familial cancer syndromes in Valka district of Latvia.
        Hered Cancer Clin Pract. 2010; 8: 8
        • Anderson EE
        • Tejeda S
        • Childers K
        • Stolley MR
        • Warnecke RB
        • Hoskins KF
        Breast cancer risk assessment among low-income women of color in primary care: a pilot study.
        J Oncol Pract. 2015; 11: e460-e467
        • Bradbury A
        • Patrick-Miller L
        • Harris D
        • et al.
        Utilizing remote real-time videoconferencing to expand access to cancer genetic services in community practices: a multicenter feasibility study.
        J Med Internet Res. 2016; 18: e23
        • Niendorf KB
        • Geller MA
        • Vogel RI
        • et al.
        A model for patient-direct screening and referral for familial cancer risk.
        Fam Cancer. 2016; 15: 707-716
        • Luba DG
        • DiSario JA
        • Rock C
        • et al.
        Community practice implementation of a self-administered version of PREMM1,2,6 to assess risk for Lynch syndrome.
        Clin Gastroenterol Hepatol. 2018; 16: 49-58
        • Wernke K
        • Bellcross C
        • Gabram S
        • Ali N
        • Stanislaw C
        Impact of implementing B-RSTTM to screen for hereditary breast and ovarian cancer on risk perception and genetic counseling uptake among women in an academic safety net hospital.
        Clin Breast Cancer. 2019; 19: e547-e555
        • McGuinness JE
        • Trivedi MS
        • Silverman T
        • et al.
        Uptake of genetic testing for germline BRCA1/2 pathogenic variants in a predominantly Hispanic population.
        Cancer Genet. 2019; 235–236: 72-76
        • Gunaratnam NT
        • Akce M
        • Al Natour R
        • et al.
        Screening for cancer genetic syndromes with a simple risk-assessment tool in a community-based open-access colonoscopy practice.
        Am J Gastroenterol. 2016; 111: 589-593
        • Miller SM
        • Fleisher L
        • Roussi P
        • et al.
        Facilitating informed decision making about breast cancer risk and genetic counseling among women calling the NCI's Cancer Information Service.
        J Health Commun. 2005; 10: 119-136
        • Pasick RJ
        • Joseph G
        • Stewart S
        • et al.
        Effective referral of low-income women at risk for hereditary breast and ovarian cancer to genetic counseling: a randomized delayed intervention control trial.
        Am J Public Health. 2016; 106: 1842-1848
        • Lieberman S
        • Tomer A
        • Ben-Chetrit A
        • et al.
        Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral [published correction appears in Genet Med. 2020;22(3):672].
        Genet Med. 2017; 19: 754-762
        • Helsper CW
        • Van Vliet LM
        • Velthuizen ME
        • et al.
        Identifying patients with a history of ovarian cancer for referral for genetic counselling: non-randomised comparison of two case-finding strategies in primary care.
        Br J Gen Pract. 2018; 68: e750-e756
        • Scheuner MT
        • Hamilton AB
        • Peredo J
        • et al.
        A cancer genetics toolkit improves access to genetic services through documentation and use of the family history by primary-care clinicians.
        Genet Med. 2014; 16: 60-69
        • Chambers DA
        • Feero WG
        • Khoury MJ
        Convergence of implementation science, precision medicine, and the learning health care system: a new model for biomedical research.
        JAMA. 2016; 315: 1941-1942