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25-04-2024 | Genetic Testing | Review

Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy

Authors: Rebecca Caeser, Jianbang Chiang, Ee Shien Tan, E Shyong Tai, Joanne Ngeow

Published in: Familial Cancer | Issue 2/2024

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Abstract

Hereditary Cancer makes up around 5–10% of all cancers. It is important to diagnose hereditary cancer in a timely fashion, as not only do patients require long-term care from a young age, but their relatives also require management. The main approach to capture at-risk relatives is cascade testing. It involves genetic testing of relatives of the first detected carrier of a pathogenic variant in a family i.e. the proband. The current standard of care for cascade testing is a patient-mediated approach. Probands are then advised to inform and encourage family members to undergo genetic testing. In Singapore, cascade testing is inefficient, around 10–15%, lower than the 30% global average. Here, we describe the cascade testing process and its effort to increase testing in Singapore. Precision Health Research, Singapore (PRECISE), was set up to coordinate Singapore’s National Precision Medicine strategy and has awarded five clinical implementation pilots, with one of them seeking to identify strategies for how cascade testing for hereditary cancer can be increased in a safe and cost-efficient manner. Achieving this will be done through addressing barriers such as cost, manpower shortages, exploring a digital channel for contacting at-risk relatives, and getting a deeper insight into why genetic testing gets declined. If successful, it will likely result in care pathways that are a cost-effective public health intervention for identifying individuals at risk. Surveillance and management of those unaffected at-risk individuals, if caught early, will result in improved patient outcomes, and further reduce the healthcare burden for the economy.
Literature
1.
go back to reference Nagy R, Sweet K, Eng C (2004) Highly penetrant hereditary cancer syndromes. Oncogene 23(38):6445–6470PubMedCrossRef Nagy R, Sweet K, Eng C (2004) Highly penetrant hereditary cancer syndromes. Oncogene 23(38):6445–6470PubMedCrossRef
4.
go back to reference Yoshida R (2021) Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer 28(6):1167–1180PubMedCrossRef Yoshida R (2021) Hereditary breast and ovarian cancer (HBOC): review of its molecular characteristics, screening, treatment, and prognosis. Breast Cancer 28(6):1167–1180PubMedCrossRef
5.
go back to reference Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L et al (2016) Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med 18(8):823–832PubMedCrossRef Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L et al (2016) Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. Genet Med 18(8):823–832PubMedCrossRef
6.
go back to reference Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B et al (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 53(7):465–471PubMedCrossRef Kast K, Rhiem K, Wappenschmidt B, Hahnen E, Hauke J, Bluemcke B et al (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. J Med Genet 53(7):465–471PubMedCrossRef
7.
go back to reference Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218PubMedCrossRef Aarnio M, Sankila R, Pukkala E, Salovaara R, Aaltonen LA, de la Chapelle A et al (1999) Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer 81(2):214–218PubMedCrossRef
8.
go back to reference Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M et al (2011) Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat 32(4):407–414PubMedCrossRef Kuiper RP, Vissers LE, Venkatachalam R, Bodmer D, Hoenselaar E, Goossens M et al (2011) Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Hum Mutat 32(4):407–414PubMedCrossRef
9.
go back to reference Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M et al (2022) Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nat Commun 13(1):6694PubMedPubMedCentralCrossRef Chan SH, Bylstra Y, Teo JX, Kuan JL, Bertin N, Gonzalez-Porta M et al (2022) Analysis of clinically relevant variants from ancestrally diverse Asian genomes. Nat Commun 13(1):6694PubMedPubMedCentralCrossRef
10.
go back to reference Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer. 83(10):1301–8PubMedCentralCrossRef Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer. 83(10):1301–8PubMedCentralCrossRef
11.
go back to reference Whittemore AS, Gong G, John EM, McGuire V, Li FP, Ostrow KL et al (2004) Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev 13(12):2078–83PubMedCrossRef Whittemore AS, Gong G, John EM, McGuire V, Li FP, Ostrow KL et al (2004) Prevalence of BRCA1 mutation carriers among U.S. non-Hispanic Whites. Cancer Epidemiol Biomarkers Prev 13(12):2078–83PubMedCrossRef
13.
go back to reference Caeser R, Ngeow J (2023) It’s all in your genes: what primary care should know about hereditary cancer syndromes. The Singapore Family Physician. Contract No.: Unit No 3. Caeser R, Ngeow J (2023) It’s all in your genes: what primary care should know about hereditary cancer syndromes. The Singapore Family Physician. Contract No.: Unit No 3.
14.
go back to reference Evaluation of Genomic Applications in P, Prevention Working G (2009) 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. 11(1):35–41CrossRef Evaluation of Genomic Applications in P, Prevention Working G (2009) 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. 11(1):35–41CrossRef
15.
go back to reference Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C et al (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975PubMedPubMedCentralCrossRef Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C et al (2010) Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA 304(9):967–975PubMedPubMedCentralCrossRef
17.
go back to reference Frey MK, Ahsan MD, Bergeron H, Lin J, Li X, Fowlkes RK et al (2022) Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. J Clin Oncol 40(35):4129–4143PubMedPubMedCentralCrossRef Frey MK, Ahsan MD, Bergeron H, Lin J, Li X, Fowlkes RK et al (2022) Cascade Testing for Hereditary Cancer Syndromes: Should We Move Toward Direct Relative Contact? A Systematic Review and Meta-Analysis. J Clin Oncol 40(35):4129–4143PubMedPubMedCentralCrossRef
18.
go back to reference Chieng WS, Lee SC (2012) Discrepancy between initial high expression of interest in clinical cancer genetic testing and actual low uptake in an Asian population. Genet Test Mol Biomarkers 16(7):785–793PubMedCrossRef Chieng WS, Lee SC (2012) Discrepancy between initial high expression of interest in clinical cancer genetic testing and actual low uptake in an Asian population. Genet Test Mol Biomarkers 16(7):785–793PubMedCrossRef
19.
go back to reference Yoon SY, Thong MK, Taib NA, Yip CH, Teo SH (2011) Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Fam Cancer 10(2):199–205PubMedCrossRef Yoon SY, Thong MK, Taib NA, Yip CH, Teo SH (2011) Genetic counseling for patients and families with hereditary breast and ovarian cancer in a developing Asian country: an observational descriptive study. Fam Cancer 10(2):199–205PubMedCrossRef
20.
go back to reference Li ST, Yuen J, Zhou K, Binte Ishak ND, Chen Y, Met-Domestici M et al (2017) Impact of subsidies on cancer genetic testing uptake in Singapore. J Med Genet 54(4):254–259PubMedCrossRef Li ST, Yuen J, Zhou K, Binte Ishak ND, Chen Y, Met-Domestici M et al (2017) Impact of subsidies on cancer genetic testing uptake in Singapore. J Med Genet 54(4):254–259PubMedCrossRef
21.
22.
go back to reference Courtney E, Chok AK, Ting Ang ZL, Shaw T, Li ST, Yuen J et al (2019) Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. NPJ Genom Med 4:22PubMedPubMedCentralCrossRef Courtney E, Chok AK, Ting Ang ZL, Shaw T, Li ST, Yuen J et al (2019) Impact of free cancer predisposition cascade genetic testing on uptake in Singapore. NPJ Genom Med 4:22PubMedPubMedCentralCrossRef
23.
go back to reference Bednar EM, Sun CC, McCurdy S, Vernon SW (2020) Assessing relatives’ readiness for hereditary cancer cascade genetic testing. Genet Med 22(4):719–726PubMedCrossRef Bednar EM, Sun CC, McCurdy S, Vernon SW (2020) Assessing relatives’ readiness for hereditary cancer cascade genetic testing. Genet Med 22(4):719–726PubMedCrossRef
24.
go back to reference Fillon M (2019) Low-cost online cascade test may persuade relatives to investigate their own cancer risk. CA Cancer J Clin 69(2):86–87PubMedCrossRef Fillon M (2019) Low-cost online cascade test may persuade relatives to investigate their own cancer risk. CA Cancer J Clin 69(2):86–87PubMedCrossRef
25.
go back to reference Griffin NE, Buchanan TR, Smith SH, Leon AA, Meyer MF, Liu J et al (2020) Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention. Gynecol Oncol 156(1):140–146PubMedCrossRef Griffin NE, Buchanan TR, Smith SH, Leon AA, Meyer MF, Liu J et al (2020) Low rates of cascade genetic testing among families with hereditary gynecologic cancer: An opportunity to improve cancer prevention. Gynecol Oncol 156(1):140–146PubMedCrossRef
26.
go back to reference Sun S, Li ST, Ngeow J (2020) Factors shaping at-risk individuals’ decisions to undergo genetic testing for cancer in Asia. Health Soc Care Community 28(5):1569–1577PubMedCrossRef Sun S, Li ST, Ngeow J (2020) Factors shaping at-risk individuals’ decisions to undergo genetic testing for cancer in Asia. Health Soc Care Community 28(5):1569–1577PubMedCrossRef
27.
go back to reference Roberts MC, Dotson WD, DeVore CS, Bednar EM, Bowen DJ, Ganiats TG et al (2018) Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature. Health Aff (Millwood) 37(5):801–808PubMedCrossRef Roberts MC, Dotson WD, DeVore CS, Bednar EM, Bowen DJ, Ganiats TG et al (2018) Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature. Health Aff (Millwood) 37(5):801–808PubMedCrossRef
28.
go back to reference Foster C, Evans DG, Eeles R, Eccles D, Ashley S, Brooks L et al (2004) Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genet Test 8(1):23–29PubMedCrossRef Foster C, Evans DG, Eeles R, Eccles D, Ashley S, Brooks L et al (2004) Non-uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, cancer worry, and barriers to testing in a multicenter clinical cohort. Genet Test 8(1):23–29PubMedCrossRef
30.
go back to reference Li ST, Sun S, Lie D, Met-Domestici M, Courtney E, Menon S et al (2018) Factors influencing the decision to share cancer genetic results among family members: An in-depth interview study of women in an Asian setting. Psychooncology 27(3):998–1004PubMedCrossRef Li ST, Sun S, Lie D, Met-Domestici M, Courtney E, Menon S et al (2018) Factors influencing the decision to share cancer genetic results among family members: An in-depth interview study of women in an Asian setting. Psychooncology 27(3):998–1004PubMedCrossRef
31.
go back to reference Lim JN, Potrata B, Simonella L, Ng CW, Aw TC, Dahlui M et al (2015) Barriers to early presentation of self-discovered breast cancer in Singapore and Malaysia: a qualitative multicentre study. BMJ Open 5(12):e009863PubMedPubMedCentralCrossRef Lim JN, Potrata B, Simonella L, Ng CW, Aw TC, Dahlui M et al (2015) Barriers to early presentation of self-discovered breast cancer in Singapore and Malaysia: a qualitative multicentre study. BMJ Open 5(12):e009863PubMedPubMedCentralCrossRef
32.
go back to reference Bhoo-Pathy N, Hartman M, Yip CH, Saxena N, Taib NA, Lim SE et al (2012) Ethnic differences in survival after breast cancer in South East Asia. PLoS ONE 7(2):e30995PubMedPubMedCentralCrossRef Bhoo-Pathy N, Hartman M, Yip CH, Saxena N, Taib NA, Lim SE et al (2012) Ethnic differences in survival after breast cancer in South East Asia. PLoS ONE 7(2):e30995PubMedPubMedCentralCrossRef
33.
go back to reference Shaw T, Ishak D, Lie D, Menon S, Courtney E, Li ST et al (2018) The influence of Malay cultural beliefs on breast cancer screening and genetic testing: A focus group study. Psychooncology 27(12):2855–2861PubMedCrossRef Shaw T, Ishak D, Lie D, Menon S, Courtney E, Li ST et al (2018) The influence of Malay cultural beliefs on breast cancer screening and genetic testing: A focus group study. Psychooncology 27(12):2855–2861PubMedCrossRef
34.
go back to reference Farooqui M, Hassali MA, Knight A, Shafie AA, Farooqui MA, Saleem F et al (2013) A qualitative exploration of Malaysian cancer patients’ perceptions of cancer screening. BMC Public Health 13:48PubMedPubMedCentralCrossRef Farooqui M, Hassali MA, Knight A, Shafie AA, Farooqui MA, Saleem F et al (2013) A qualitative exploration of Malaysian cancer patients’ perceptions of cancer screening. BMC Public Health 13:48PubMedPubMedCentralCrossRef
35.
go back to reference Kerr M, Pears R, Miedzybrodzka Z, Haralambos K, Cather M, Watson M et al (2017) Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J 38(23):1832–1839PubMedPubMedCentralCrossRef Kerr M, Pears R, Miedzybrodzka Z, Haralambos K, Cather M, Watson M et al (2017) Cost effectiveness of cascade testing for familial hypercholesterolaemia, based on data from familial hypercholesterolaemia services in the UK. Eur Heart J 38(23):1832–1839PubMedPubMedCentralCrossRef
36.
go back to reference Teppala S, Hodgkinson B, Hayes S, Scuffham P, Tuffaha H (2023) A review of the cost-effectiveness of genetic testing for germline variants in familial cancer. J Med Econ 26(1):19–33PubMedCrossRef Teppala S, Hodgkinson B, Hayes S, Scuffham P, Tuffaha H (2023) A review of the cost-effectiveness of genetic testing for germline variants in familial cancer. J Med Econ 26(1):19–33PubMedCrossRef
37.
go back to reference Green RF, Dotson WD, Bowen S, Kolor K, Khoury MJ (2015) Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). Healthcare (Basel) 3(3):830–837PubMedCrossRef Green RF, Dotson WD, Bowen S, Kolor K, Khoury MJ (2015) Genomics in Public Health: Perspective from the Office of Public Health Genomics at the Centers for Disease Control and Prevention (CDC). Healthcare (Basel) 3(3):830–837PubMedCrossRef
38.
go back to reference Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW (2019) Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. J Natl Cancer Inst 111(1):95–98PubMedCrossRef Caswell-Jin JL, Zimmer AD, Stedden W, Kingham KE, Zhou AY, Kurian AW (2019) Cascade Genetic Testing of Relatives for Hereditary Cancer Risk: Results of an Online Initiative. J Natl Cancer Inst 111(1):95–98PubMedCrossRef
39.
go back to reference Suthers GK, Armstrong J, McCormack J, Trott D (2006) Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 43(8):665–670PubMedCrossRef Suthers GK, Armstrong J, McCormack J, Trott D (2006) Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder. J Med Genet 43(8):665–670PubMedCrossRef
40.
go back to reference Torr B, Jones C, Choi S, Allen S, Kavanaugh G, Hamill M et al (2022) A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot. J Med Genet 59(12):1179–1188PubMedCrossRef Torr B, Jones C, Choi S, Allen S, Kavanaugh G, Hamill M et al (2022) A digital pathway for genetic testing in UK NHS patients with cancer: BRCA-DIRECT randomised study internal pilot. J Med Genet 59(12):1179–1188PubMedCrossRef
41.
go back to reference Stanislaw C, Xue Y, Wilcox WR (2016) Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing. Cancer Biol Med 13(1):55–67PubMedPubMedCentralCrossRef Stanislaw C, Xue Y, Wilcox WR (2016) Genetic evaluation and testing for hereditary forms of cancer in the era of next-generation sequencing. Cancer Biol Med 13(1):55–67PubMedPubMedCentralCrossRef
42.
go back to reference Kohler S. Precision medicine – moving away from one-size-fits-all2018; 14. Kohler S. Precision medicine – moving away from one-size-fits-all2018; 14.
43.
go back to reference Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB et al (2018) The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 361:k1687PubMedCrossRef Turnbull C, Scott RH, Thomas E, Jones L, Murugaesu N, Pretty FB et al (2018) The 100 000 Genomes Project: bringing whole genome sequencing to the NHS. BMJ 361:k1687PubMedCrossRef
44.
go back to reference All of Us Research Program I, Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW et al (2019) The “All of Us” Research Program. N Engl J Med. 381(7):668–76CrossRef All of Us Research Program I, Denny JC, Rutter JL, Goldstein DB, Philippakis A, Smoller JW et al (2019) The “All of Us” Research Program. N Engl J Med. 381(7):668–76CrossRef
45.
go back to reference Wong E, Bertin N, Hebrard M, Tirado-Magallanes R, Bellis C, Lim WK et al (2023) The Singapore National Precision Medicine Strategy. Nat Genet 55(2):178–186PubMedCrossRef Wong E, Bertin N, Hebrard M, Tirado-Magallanes R, Bellis C, Lim WK et al (2023) The Singapore National Precision Medicine Strategy. Nat Genet 55(2):178–186PubMedCrossRef
46.
go back to reference Hawe JS, Wilson R, Schmid KT, Zhou L, Lakshmanan LN, Lehne BC et al (2022) Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function. Nat Genet 54(1):18–29PubMedCrossRef Hawe JS, Wilson R, Schmid KT, Zhou L, Lakshmanan LN, Lehne BC et al (2022) Genetic variation influencing DNA methylation provides insights into molecular mechanisms regulating genomic function. Nat Genet 54(1):18–29PubMedCrossRef
49.
go back to reference Narayan KMV, Kanaya AM (2020) Why are South Asians prone to type 2 diabetes? A hypothesis based on underexplored pathways. Diabetologia 63(6):1103–1109PubMedPubMedCentralCrossRef Narayan KMV, Kanaya AM (2020) Why are South Asians prone to type 2 diabetes? A hypothesis based on underexplored pathways. Diabetologia 63(6):1103–1109PubMedPubMedCentralCrossRef
50.
go back to reference Ndugga-Kabuye MK, Issaka RB (2019) Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European. Fam Cancer 18(4):465–469PubMedPubMedCentralCrossRef Ndugga-Kabuye MK, Issaka RB (2019) Inequities in multi-gene hereditary cancer testing: lower diagnostic yield and higher VUS rate in individuals who identify as Hispanic, African or Asian and Pacific Islander as compared to European. Fam Cancer 18(4):465–469PubMedPubMedCentralCrossRef
51.
go back to reference Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S et al (2017) Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study. BMC Cancer 17(1):149PubMedPubMedCentralCrossRef Lai KN, Ho WK, Kang IN, Kang PC, Phuah SY, Mariapun S et al (2017) Characterization of BRCA1 and BRCA2 variants in multi-ethnic Asian cohort from a Malaysian case-control study. BMC Cancer 17(1):149PubMedPubMedCentralCrossRef
52.
go back to reference Xie Y, Li G, Chen M, Guo X, Tang L, Luo X et al (2018) Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients. Clin Genet 93(1):41–51PubMedCrossRef Xie Y, Li G, Chen M, Guo X, Tang L, Luo X et al (2018) Mutation screening of 10 cancer susceptibility genes in unselected breast cancer patients. Clin Genet 93(1):41–51PubMedCrossRef
53.
go back to reference So MK, Jeong TD, Lim W, Moon BI, Paik NS, Kim SC et al (2019) Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines. Breast Cancer 26(4):510–519PubMedCrossRef So MK, Jeong TD, Lim W, Moon BI, Paik NS, Kim SC et al (2019) Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines. Breast Cancer 26(4):510–519PubMedCrossRef
54.
go back to reference Yuen J, Ngeow J. Principles of clinical genetics and the ethical, legal, and social implications. The Singapore family physician. (genomic medicine: clinical primer). Yuen J, Ngeow J. Principles of clinical genetics and the ethical, legal, and social implications. The Singapore family physician. (genomic medicine: clinical primer).
55.
go back to reference Chiang J, Chia TH, Yuen J, Shaw T, Li ST, Binte Ishak ND et al (2021) Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care. JCO Precis Oncol 5:577–584PubMedCrossRef Chiang J, Chia TH, Yuen J, Shaw T, Li ST, Binte Ishak ND et al (2021) Impact of Variant Reclassification in Cancer Predisposition Genes on Clinical Care. JCO Precis Oncol 5:577–584PubMedCrossRef
56.
go back to reference Plon SE, Cooper HP, Parks B, Dhar SU, Kelly PA, Weinberg AD et al (2011) Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med 13(2):148–154PubMedPubMedCentralCrossRef Plon SE, Cooper HP, Parks B, Dhar SU, Kelly PA, Weinberg AD et al (2011) Genetic testing and cancer risk management recommendations by physicians for at-risk relatives. Genet Med 13(2):148–154PubMedPubMedCentralCrossRef
57.
go back to reference O’Neill SC, Rini C, Goldsmith RE, Valdimarsdottir H, Cohen LH, Schwartz MD (2009) Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes. Psychooncology 18(10):1088–1096PubMedPubMedCentralCrossRef O’Neill SC, Rini C, Goldsmith RE, Valdimarsdottir H, Cohen LH, Schwartz MD (2009) Distress among women receiving uninformative BRCA1/2 results: 12-month outcomes. Psychooncology 18(10):1088–1096PubMedPubMedCentralCrossRef
64.
go back to reference Sim J, Shaw T, Li ST, Courtney E, Yuen J, Chiang J et al (2021) Understanding patients’ views and willingness toward the use of telehealth in a cancer genetics service in Asia. J Genet Couns 30(6):1658–1670PubMedCrossRef Sim J, Shaw T, Li ST, Courtney E, Yuen J, Chiang J et al (2021) Understanding patients’ views and willingness toward the use of telehealth in a cancer genetics service in Asia. J Genet Couns 30(6):1658–1670PubMedCrossRef
65.
go back to reference Chin XW, Ang ZLT, Tan RYC, Courtney E, Shaw T, Chen Y et al (2020) Use of telephone intake for family history taking at a cancer genetics service in Asia. J Genet Couns 29(6):1192–1199PubMedCrossRef Chin XW, Ang ZLT, Tan RYC, Courtney E, Shaw T, Chen Y et al (2020) Use of telephone intake for family history taking at a cancer genetics service in Asia. J Genet Couns 29(6):1192–1199PubMedCrossRef
66.
go back to reference Shaw T, Fok R, Courtney E, Li ST, Chiang J, Ngeow J (2023) Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing. Singapore Med J 64(1):67–73PubMedPubMedCentralCrossRef Shaw T, Fok R, Courtney E, Li ST, Chiang J, Ngeow J (2023) Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing. Singapore Med J 64(1):67–73PubMedPubMedCentralCrossRef
68.
go back to reference Shaw T, Metras J, Ting ZAL, Courtney E, Li ST, Ngeow J (2018) Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service. J Genet Couns 27(6):1473–1481PubMedCrossRef Shaw T, Metras J, Ting ZAL, Courtney E, Li ST, Ngeow J (2018) Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service. J Genet Couns 27(6):1473–1481PubMedCrossRef
69.
go back to reference Yuen J, Lee SY, Courtney E, Lim J, Soh H, Li ST et al (2020) Evaluating empowerment in genetic counseling using patient-reported outcomes. Clin Genet 97(2):246–256PubMedCrossRef Yuen J, Lee SY, Courtney E, Lim J, Soh H, Li ST et al (2020) Evaluating empowerment in genetic counseling using patient-reported outcomes. Clin Genet 97(2):246–256PubMedCrossRef
70.
go back to reference Lam JCM, Lee SY, Koh PL, Fong SZ, Abdul-Kadir NI, Lim CY et al (2021) Clinical and health-related quality of life outcomes of transfusion-dependent thalassaemia patients in Singapore. Blood Cells Mol Dis 88:102547PubMedCrossRef Lam JCM, Lee SY, Koh PL, Fong SZ, Abdul-Kadir NI, Lim CY et al (2021) Clinical and health-related quality of life outcomes of transfusion-dependent thalassaemia patients in Singapore. Blood Cells Mol Dis 88:102547PubMedCrossRef
71.
go back to reference Yuen J, Fung SM, Sia CL, Venkatramani M, Shaw T, Courtney E et al (2020) An in-depth exploration of the post-test informational needs of BRCA1 and BRCA2 pathogenic variant carriers in Asia. Hered Cancer Clin Pract 18:22PubMedPubMedCentralCrossRef Yuen J, Fung SM, Sia CL, Venkatramani M, Shaw T, Courtney E et al (2020) An in-depth exploration of the post-test informational needs of BRCA1 and BRCA2 pathogenic variant carriers in Asia. Hered Cancer Clin Pract 18:22PubMedPubMedCentralCrossRef
Metadata
Title
Cascade testing for hereditary cancer in Singapore: how population genomics help guide clinical policy
Authors
Rebecca Caeser
Jianbang Chiang
Ee Shien Tan
E Shyong Tai
Joanne Ngeow
Publication date
25-04-2024
Publisher
Springer Netherlands
Keyword
Genetic Testing
Published in
Familial Cancer / Issue 2/2024
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-024-00376-1

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