Barriers to Genetic Counselling and Testing among Breast and Ovarian Cancer Patients in low Low-Middle-Income Country Referral Hospital - A Prospective Study
DOI:
https://doi.org/10.37506/x8xctq95Keywords:
Hereditary cancer, genetic counseling, genetic testing, financial barriers, BRCAAbstract
Background
Breast and ovarian cancers pose significant health burdens in India, with hereditary cases contributing to disease incidence. Genetic counselling (GC) and genetic testing (GT) are essential for risk assessment and management, yet their utilization remains limited. This study evaluates barriers to GC and GT among breast and ovarian cancer patients in a low-middle-income country (LMIC) referral hospital.
Methods
A prospective study was conducted at a tertiary care hospital in South India. Newly diagnosed breast and ovarian cancer patients were screened for GC and GT eligibility based on modified NCCN guidelines. Patients underwent counseling, testing, or were interviewed regarding barriers to uptake. Statistical analysis was performed using SPSS 22.0.
Results
Among 120 eligible patients, 42% underwent GT, while 49% declined both GC and GT. The primary barrier was financial constraints (52%), followed by emotional burden concerns (18%), lack of awareness (16%), and social stigma (9%). Pathogenic mutations were detected in 40% of tested patients, with BRCA mutations being most common.
Conclusion
Despite decreasing GT costs, financial burden remains a major barrier. Addressing economic, educational, and social factors is crucial to improving genetic service utilization and enhancing cancer management in LMIC settings.
References
Sathishkumar K, Chaturvedi M, Das P, Stephen S, Mathur P. Cancer incidence estimates for 2022 & projection for 2025: Result from National Cancer Registry Programme, India. Indian Journal of Medical Research. 2022 Nov;156(4 & 5):598.
Healy B. BRCA Genes — Bookmaking, Fortunetelling, and Medical Care. New England Journal of Medicine. 1997 May 15;336(20):1448–9.
Singer CF. Genetic Testing in Breast Cancer: New Standards of Care. Breast Care (Basel). 2021 Jun;16(3):193–5.
Daly MB, Pilarski R, Axilbund JE, Berry M, Buys SS, Crawford B, et al. Genetic/Familial High-Risk Assessment: Breast and Ovarian, Version 2.2015. Journal of the National Comprehensive Cancer Network. 2016 Feb 1;14(2):153–62.
Malhotra H, Kowtal P, Mehra N, Pramank R, Sarin R, Rajkumar T, et al. Genetic Counseling, Testing, and Management of HBOC in India: An Expert Consensus Document from Indian Society of Medical and Pediatric Oncology. JCO Global Oncology [Internet]. 2020 Jul [cited 2025 Feb 21]; Available from: https://ascopubs.org/doi/10.1200/JGO.19.00381
Robson ME, Bradbury AR, Arun B, Domchek SM, Ford JM, Hampel HL, et al. American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. Journal of Clinical Oncology [Internet]. 2015 Nov 1 [cited 2024 Dec 14]; Available from: https://ascopubs.org/doi/10.1200/JCO.2015.63.0996
Stenehjem DD, Au T, Sainski AM, Bauer H, Brown K, Lancaster J, et al. Impact of a genetic counseling requirement prior to genetic testing. BMC Health Services Research. 2018 Mar 7;18(1):165.
White VB, Walsh KK, Foss KS, Amacker-North L, Lenarcic S, Mcneely L, et al. Genetic Testing for Hereditary Breast Cancer: The Decision to Decline. The American SurgeonTM. 2018 Jan 1;84(1):154–60.
Jacobs C, Patch C, Michie S. Communication about genetic testing with breast and ovarian cancer patients: a scoping review. Eur J Hum Genet. 2019 Apr;27(4):511–24.
Suther S, Goodson P. Barriers to the provision of genetic services by primary care physicians: A systematic review of the literature. Genet Med. 2003 Mar;5(2):70–6.
Ulhaq E, Huda F, Suhail C, Sheth H, Anu RI. Narrative review on genetic counseling for hereditary cancers: General considerations. Cancer Research, Statistics, and Treatment. 2023 Jun;6(2):239.
Fallowfield L, Jenkins V. Effective communication skills are the key to good cancer care. European Journal of Cancer. 1999 Oct 1;35(11):1592–7.
De Vries AMM, de Roten Y, Meystre C, Passchier J, Despland JN, Stiefel F. Clinician characteristics, communication, and patient outcome in oncology: a systematic review. Psychooncology. 2014 Apr;23(4):375–81.
Oliveri S, Ferrari F, Manfrinati A, Pravettoni G. A Systematic Review of the Psychological Implications of Genetic Testing: A Comparative Analysis Among Cardiovascular, Neurodegenerative and Cancer Diseases. Front Genet [Internet]. 2018 Dec 10 [cited 2024 Dec 14];9. Available from: https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2018.00624/full
Zhong A, Darren B, Loiseau B, He LQB, Chang T, Hill J, et al. Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: a systematic review. Genetics in Medicine. 2021 Dec 1;23(12):2270–80.
Allen CG, Roberts M, Guan Y. Exploring Predictors of Genetic Counseling and Testing for Hereditary Breast and Ovarian Cancer: Findings from the 2015 U.S. National Health Interview Survey. J Pers Med. 2019 May 10;9(2):26.
Lee SC, Bernhardt BA, Helzlsouer KJ. Utilization of BRCA1/2 genetic testing in the clinical setting. Cancer. 2002;94(6):1876–85.
Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C, DeMarco T, et al. Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients. Cancer Epidemiology, Biomarkers & Prevention. 2005 Apr 11;14(4):1003–7.
Kurian AW, Griffith KA, Hamilton AS, Ward KC, Morrow M, Katz SJ, et al. Genetic testing and counseling among patients with newly diagnosed breast cancer. JAMA. 2017 Feb 7;317(5):531–4.
Durfy SJ, Bowen DJ, McTiernan A, Sporleder J, Burke W. Attitudes and Interest in Genetic Testing for Breast and Ovarian Cancer Susceptibility in Diverse Groups of Women in Western Washington1. Cancer Epidemiology, Biomarkers & Prevention. 1999 Apr 1;8(4):369–75.
Delikurt T, Williamson GR, Anastasiadou V, Skirton H. A systematic review of factors that act as barriers to patient referral to genetic services. Eur J Hum Genet. 2015 Jun;23(6):739–45.
Singh A, Chokhandre P, Singh AK, Barker KM, Kumar K, McDougal L, et al. Development of the India Patriarchy Index: Validation and Testing of Temporal and Spatial Patterning. Soc Indic Res. 2022 Jan 1;159(1):351–77.
Patch C, Middleton A. Genetic counselling in the era of genomic medicine. British Medical Bulletin. 2018 Jun 1;126(1):27–36.
Koil CE, Everett JN, Hoechstetter L, Ricer RE, Huelsman KM. Differences in physician referral practices and attitudes regarding hereditary breast cancer by clinical practice location. Genetics in Medicine. 2003 Sep;5(5):364–9.
Beene-Harris RY, Wang C, Bach JV. Barriers to Access: Results from Focus Groups to Identify Genetic Service Needs in the Community. Community Genetics. 2006 Dec 13;10(1):10–8.
Singh J, Thota N, Singh S, Padhi S, Mohan P, Deshwal S, et al. Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. Breast Cancer Res Treat. 2018 Jul 1;170(1):189–96.
Darooei M, Poornima S, Salma BU, Iyer GR, Pujar AN, Annapurna S, et al. Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population. Tumour Biol. 2017 Feb 1;39(2):1010428317694303.
Shi T, Wang P, Xie C, Yin S, Shi D, Wei C, et al. BRCA1 and BRCA2 mutations in ovarian cancer patients from China: ethnic-related mutations in BRCA1 associated with an increased risk of ovarian cancer. International Journal of Cancer. 2017;140(9):2051–9.
ADACHI M, BANNO K, YANOKURA M, IIDA M, NAKAMURA K, NOGAMI Y, et al. Risk-reducing surgery in hereditary gynecological cancer: Clinical applications in Lynch syndrome and hereditary breast and ovarian cancer. Mol Clin Oncol. 2015 Mar;3(2):267–73.
Marcinkute R, Woodward ER, Gandhi A, Howell S, Crosbie EJ, Wissely J, et al. Uptake and efficacy of bilateral risk reducing surgery in unaffected female BRCA1 and BRCA2 carriers. Journal of Medical Genetics. 2022 Feb 1;59(2):133–40.
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