scholarly journals Patient-Reported Outcomes following Genetic Testing for Familial Hypercholesterolemia, Breast and Ovarian Cancer Syndrome, and Lynch Syndrome: A Systematic Review

2021 ◽  
Vol 11 (9) ◽  
pp. 850
Author(s):  
Rachele M. Hendricks-Sturrup ◽  
Lucson Joseph ◽  
Christine Y. Lu
Keyword(s):  
Systematic Review ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Real World ◽  
Patient Reported Outcomes ◽  
Clinical Intervention ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Patient Reported

Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Methods: A systematic review was conducted via PubMed/MEDLINE, EMBASE, and Yale University’s TRIP Medical Databases on articles published by April 2021. Results: We identified 24 studies published between 1996 and 2021 representing 4279 participants that reported PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Studies collected and reported PROs from validated PROM instruments (n = 12; 50%), validated surveys (n = 7; 26%), and interviews (n = 10; 42%). PRO themes ranged across all collection methods (e.g., psychological, knowledge, coping and satisfaction, concern about stigma/discrimination, etc.). Conclusions: Important gaps identified include (1) most studies (n = 18; 75%) reported PROs following genetic testing for breast and ovarian cancer, and (2) populations reporting PROs overall were largely of White/Caucasian/Northern European/Anglo-Saxon descent. We offer recommendations and describe real-world implications for the field moving forward.

scholarly journals Factors associated with genetic testing distress in patients tested for Lynch Syndrome or Hereditary Breast and Ovarian Cancer Syndrome

2011 ◽  
Vol 9 (Suppl 1) ◽  
pp. P33
Author(s):  
Margery Rosenblatt ◽  
Monica Dandapani ◽  
Rowena Mercado ◽  
Judy E Garber ◽  
Sapna Syngal ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Lynch Syndrome ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Factors Associated

scholarly journals Identifying Lynch Syndrome in Two Families with Classical Hereditary Breast and Ovarian Cancer Syndrome Phenotype: A Case Report

2018 ◽  
Vol 10 (9) ◽  
Author(s):  
Salha Bujassoum ◽  
Reem Alsulaiman ◽  
Hind Elmalik ◽  
Kulssom Junejo ◽  
Ahmed Mahfouz ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Case Report ◽  
Lynch Syndrome ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer

scholarly journals Non-BRCA1/2 Variants Detected in a High-Risk Chilean Cohort With a History of Breast and/or Ovarian Cancer

2019 ◽  
pp. 1-14 ◽  
Author(s):  
Christina Adaniel ◽  
Francisca Salinas ◽  
Juan Manuel Donaire ◽  
Maria Eugenia Bravo ◽  
Octavio Peralta ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
High Risk ◽  
Genetic Predisposition ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Pathogenic Variants ◽  
Cancer Program ◽  
Genetic Test Results

PURPOSE Little is known about the genetic predisposition to breast and ovarian cancer among the Chilean population, in particular genetic predisposition beyond BRCA1 and BRCA2 mutations. In the current study, we aim to describe the germline variants detected in individuals who were referred to a hereditary cancer program in Santiago, Chile. METHODS Data were retrospectively collected from the registry of the High-Risk Breast and Ovarian Cancer Program at Clínica Las Condes, Santiago, Chile. Data captured included index case diagnosis, ancestry, family history, and genetic test results. RESULTS Three hundred fifteen individuals underwent genetic testing during the study period. The frequency of germline pathogenic and likely pathogenic variants in a breast or ovarian cancer predisposition gene was 20.3%. Of those patients who underwent testing with a panel of both high- and moderate-penetrance genes, 10.5% were found to have pathogenic or likely pathogenic variants in non- BRCA1/2 genes. CONCLUSION Testing for non- BRCA1 and -2 mutations may be clinically relevant for individuals who are suspected to have a hereditary breast or ovarian cancer syndrome in Chile. Comprehensive genetic testing of individuals who are at high risk is necessary to further characterize the genetic susceptibility to cancer in Chile.

How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial

2020 ◽  
Author(s):  
Francisca Fernanda Barbosa Oliveira ◽  
Paulo Goberlânio de Barros Silva ◽  
Rosane Oliveira de Sant’Ana ◽  
Clarissa Gondim Picanço de Albuquerque ◽  
Maria Júlia Barbosa Bezerra ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Anxiety Depression

scholarly journals Genetic services for Hereditary Cancer: a systematic review of Patient Reported Outcomes studies

2019 ◽  
Vol 29 (Supplement_4) ◽  
Author(s):  
E Pitini ◽  
E D’Andrea ◽  
A Rosso ◽  
A Massimi ◽  
B Unim ◽  
...  
Keyword(s):  
Systematic Review ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Information And Communication Technologies ◽  
Patient Reported Outcomes ◽  
Disease Risk ◽  
Depression Scale ◽  
Genetic Services ◽  
Genetic Profile ◽  
Patient Reported

Abstract Background Genetic services for Hereditary Breast and Ovarian Cancer (HBOC) have become part of clinical and public health practice. Nevertheless, the evaluation of such services, including genetic testing and counseling, is challenging as they rarely affect health status measures (e.g. mortality and morbidity). A possible way is using Patient Reported Outcomes (PROs) i.e. subjective reports coming from patients, directly attributable to genetic services. We performed a systematic review to explore the use of PROs in HBOC genetic services. Methods We searched Pubmed, Scopus, and ISI Web of Knowledge for observational studies using PROs to assess standard genetic counseling (i.e. in person and individual) for HBOC. Results We identified ten surveys from various countries (USA n = 5; Europa n = 6), published between 2000 and 2018 and mainly conducted in Teaching hospitals and Cancer Research and Treatment Institutes (n = 9). The majority assessed pre-test counseling (n = 6) with diagnostic or predictive purpose. The most frequently measured outcomes were patient satisfaction (n = 9), adherence to recommended interventions (n = 3), information sharing with relatives (n = 3); disease risk perception (n = 2), and psychosocial distress (n = 2). Six studies adopted standardized PROs collection tools: the most common were the Genetic Counseling Satisfaction Scale and the Hospital Anxiety and Depression Scale. Questionnaires were mainly administered by post, soon after genetic counseling or up to seven years later. Overall, patients seem satisfied with genetic counseling. Nevertheless, more attention to the psycho-social aspects of genetic testing is needed. Conclusions PROs are very promising for the assessment of HBOC genetic services. Their routine use could provide important elements to improve the quality and the patient-centeredness of genetic services. Emerging information and communication technologies will help this process by making it easier collecting patient data. Key messages Precision medicine, where medical decisions are tailored to an individual’s characteristics, including the patient’s genetic profile, is becoming a paradigm for chronic diseases, particularly cancer. PROs are expected to be increasingly used as a measure of performance in order to drive the changes in how clinical genetic services, and healthcare in general, are organized, delivered and founded.

scholarly journals A Comparison of Patient-Reported Outcomes Following Consent for Genetic Testing Using an Oncologist-or Genetic Counselor-Mediated Model of Care

2021 ◽  
Vol 28 (2) ◽  
pp. 1459-1471
Author(s):  
Jeanna M McCuaig ◽  
Emily Thain ◽  
Janet Malcolmson ◽  
Sareh Keshavarzi ◽  
Susan Randall Armel ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Genetic Counselor ◽  
Clear Understanding ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Patient Reported ◽  
Post Test

This study compares knowledge, experience and understanding of genetic testing, and psychological outcomes among breast and ovarian cancer patients undergoing multi-gene panel testing via genetic counselor-mediated (GMT) or oncologist-mediated (OMT) testing models. A pragmatic, prospective survey of breast and ovarian cancer patients pursuing genetic testing between January 2017 and August 2019 was conducted at the Princess Margaret Cancer Centre in Toronto, Canada. A total of 120 (80 GMT; 40 OMT) individuals completed a survey administered one week following consent to genetic testing. Compared to OMT, the GMT cohort had higher median knowledge (8 vs. 9; p = 0.025) and experience/understanding scores (8.5 vs. 10; p < 0.001) at the time of genetic testing. Significant differences were noted in the potential psychological concerns experienced, with individuals in the GMT cohort more likely to screen positive in the hereditary predisposition domain of the Psychosocial Aspects of Hereditary Cancer tool (55% vs. 27.5%; p = 0.005), and individuals in the OMT cohort more likely to screen positive in the general emotions domain (65.0% vs. 38.8%; p = 0.007). The results of this study suggest that OMT can be implemented to streamline genetic testing; however, post-test genetic counseling should remain available to all individuals undergoing genetic testing, to ensure any psychologic concerns are addressed and that individuals have a clear understanding of relevant implications and limitations of their test results.

Sign in / Sign up

Export Citation Format

Share Document