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. 2020 Sep 18;28(12):1631–1644. doi: 10.1038/s41431-020-00725-5

Table 1.

Study characteristics for included studies.

Study Setting Methods Population Intervention
Year of study publication Country Setting Year(s) of data collection Scale Design Data Source N (Study sample) % White % Female Disease Area Counseling related to cascade testing Cascade testing primarily mediated by Provision of resources related to cascade testing MMAT Score
Benson13 2016 USA Members of the WomenHeart and FH Foundation databases 2014 National Descriptive Survey data 761 86 100 Familial hypercholesterolemia NR NR NR 4
Burns14 2015 Australia Patients enrolled in the Australian Genetic Heart Disease Registry NR National Descriptive Survey data 75 NR 73 Long QT syndrome NR NR NR 4
Campbell25 2017 USA 2014 Minnesota State Fair 2014 State Descriptive Survey data 971 NR 59 Familial hypercholesterolemia NR Study team NR 3
Cheung20 2010 USA Tertiary referral cancer center and public county hospital in California 1996–2008 Multi-center Descriptive Survey data 1135 60 100 Hereditary breast and ovarian cancer NR NR NR 5
de Souza Silva21 2018 Brazil Academic medical center NR Single-center Descriptive Survey data 183 NR 54 Familial hypercholesterolemia NR Provider (trained specialized health professional) NR 3
Dilzell22 2014 USA (1) Academic medical center, (2) patients affiliated with Lynch Sydnrome International, an advocacy group 2012–2013 National Descriptive Survey data 50 91 79 Lynch syndrome NR NR NR 3
Dugueperoux23 2016 France District in western Brittany where CF incidence is high 1980–2004 Regional Descriptive Observational data 128 NR 58 Cystic Fibrosis NR NR NR 3
Finlay24 2008 USA Academic medical center 2004 Single-center Descriptive Survey data 132 93 73 Hereditary breast and ovarian cancer NR Study team NR 4
Hagoel25 2000 Israel National cancer control center NR Single-center Descriptive Observational data 438 NR 70 Hereditary breast and ovarian cancer NR Patient NR 4
Hallowell26 2011 Scotland Regional cascade testing service 2010 Regional Qualitative Interview data 38 NR 55 Familial hypercholesterolemia Yes Patient Yes (letters and written material) 3
Hardcastle15 2014 Australia Lipid disorders clinic in Royal Hospital NR Regional Qualitative Interview data 18 NR 44 Familial hypercholesterolemia NR Screening program NR 4
Ishii16 2011 Japan Cancer Institute 2005–2009 Single-center Descriptive Survey data 40 NR 63 Lynch syndrome NR NR NR 5
Lerman17 1999 USA Academic medical center 1996–1998 Single-center Descriptive Survey data 139 99 55 Lynch syndrome NR Provider NR 4
Lieberman18 2018 Israel Medical center NR National Descriptive Survey data 1771 NR 79 Hereditary breast and ovarian cancer NR NR NR 4
Maxwell19 2009 Australia Western Australia 2008 Regional Descriptive Interview and survey data 430 NR 59 Familial hypercholesterolemia NR NR NR 4
McClaren20 2013 Australia Children’s Hospital NR Single-center Mixed-methods Interview data 249 NR NR Cystic fibrosis NR NR NR 3
Mesters21 2005 Netherlands Individuals enrolled in the Netherlands Foundation for the Detection of Hereditary Tumors NR National Qualitative Interview data 30 NR 73 Lynch syndrome NR NR NR 5
Montgomery22 2013 USA Fox Chase Cancer Center 2000–2003 Single-center RCT RCT data 422 92 100 Hereditary breast and ovarian cancer NR Patient NR 4
Ormondroyd23 2014 UK Academic medical center 2010–2011 Single-center Qualitative Interview data 22 NR 60 Inherited cardiac conditions NR Patient Yes (invitation letter and information sheet) 5
Pentz24 2005 USA Academic medical center NR Single-center Qualitative Interview data 80 85 65 Lynch syndrome NR Study team NR 5
Raspa26 2006 USA National survey research registry 2012 National Descriptive Survey data 679 families 92 90 Fragile X syndrome NR NR NR 3
Smart27 2010 UK Genetics Knowledge Park program 2005–2006 Multi-center Qualitative Interview data 27 NR NR Inherited cardiac conditions NR NR NR 5
Stoffel28 2008 USA Cancer genetics clinics in academic medical centers NR Multi-center Descriptive Survey data 174 91 70 Lynch syndrome NR NR NR 4
Suttman29 2018 USA Academic medical center NR National Qualitative Interview data 21 67 0 Hereditary breast and ovarian cancer NR NR NR 5
Truong30 2018 Vietnam Academic medical center NR Single-center Descriptive Case series data 112 NR NR Familial hypercholesterolemia NR Study team NR 3
Ulph31 2015 England Research university 2008 National Qualitative Interview data 67 68 NR Cystic Fibrosis NR NR NR 5
van El43 2018 Netherlands Research university NR National Qualitative Interview data 6 NR NR Familial hypercholesterolemia NR Screening program NR 5
van Maarle33 2001 Netherlands Academic medical center 1998 National Descriptive Survey data 677 NR 54 Familial hypercholesterolemia NR Screening program NR 5
Van Rijn34 1997 Netherlands University hospital 1997 Single-center Mixed-methods Interview data 504 NR NR Fragile X Syndrome NR Patient NR 3
Wurtmann35 2018 USA Academic medical center 2016 Single-center Descriptive Survey data 38 89 87 Familial hypercholesterolemia NR NR NR 3