The present study was conducted to explore the feasibility of implementing mainstreaming of genetic testing for patients of ovarian cancer, by training a primary care level nurse, in a subspecialty hospital setting.
Genetic testing for Breast Cancer (BRCA)
gene 1 and 2 mutations in epithelial ovarian cancers and breast cancer is
recommended to guide prognosis, adjuvant treatment, and prevention of second
malignancies in the patient and primary malignancy in the carrier family
members or relatives. In India, the prevalence of BRCA and other cancer-causing
mutations is not well understood and is not sufficiently investigated. The
possible benefits of mainstreaming genetic testing include increased patient
uptake and identification of at-risk carriers, who may be targeted for
primordial or primary prevention of genetic malignancies with favourable
results. Along with this, an exploration of factors affecting the uptake of
such tests, using a structured objective survey questionnaire followed by key
informant interviews to develop a qualitative questionnaire for the future
phase of the study was undertaken.
The uptake of genetic testing among
patients was good and among healthy relatives was negligible. The affecting
factors were a lack of awareness about genetic tests and economics. The
qualitative study interview explored reasons for the low uptake of tests by
healthy family relatives, satisfaction with the counselling, and the impact of
test results on patients. Organisation of services for ovarian cancer patients
with genetic and familial pathogenic variants requires essentially establishing
referral pathways at all levels including primary care, genetic clinics, and
gynaecological oncology multidisciplinary subspecialty clinics. The pretest
counselling by trained nurses is effective but post-test counselling necessitates
a specialist oncologist. The uptake of genetic testing is affected by the level
of awareness among patients and kin and the costs. Thus, information and
support along with the establishment of referral pathways with clearly
specified criteria for patients, family members, and referring clinicians at
all levels of primary care, genetic clinics, and multidisciplinary
gynaecological oncology clinics are imperative.
Author (s) Details
Priyanka Singh
Department of Gynaecological Oncology,
Kalyan Singh Super Specialty Cancer Institute & Hospital, India.
Please see the book here:- https://doi.org/10.9734/bpi/dhrni/v4/1454
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