scholarly journals Genetic Literacy and Communication of Genetic Information in Families Concerned with Hereditary Breast and Ovarian Cancer: A Cross-Study Comparison in Two Countries and within a Timeframe of More than 10 Years

Cancers ◽  
2021 ◽  
Vol 13 (24) ◽  
pp. 6254
Author(s):  
Carla Pedrazzani ◽  
Chang Ming ◽  
Nicole Bürki ◽  
Maria Caiata-Zufferey ◽  
Pierre O. Chappuis ◽  
...  
Keyword(s):  
Higher Education ◽  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counselling ◽  
Genetic Information ◽  
Breast And Ovarian Cancer ◽  
Genetic Literacy ◽  
The Family ◽  
Family Level ◽  
The Individual

Examining genetic literacy in families concerned with hereditary breast and ovarian cancer (HBOC) helps understand how genetic information is passed on from individuals who had genetic counseling to their at-risk relatives. This cross-study comparison explored genetic literacy both at the individual and the family level using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years. Participants were primarily females, at-risk or confirmed carriers of HBOC-associated pathogenic variants, who had genetic counselling, and ≥1 of their relatives who did not. Fifteen items assessed genetic literacy. Among 1933 individuals from 518 families, 38.5% had genetic counselling and 61.5% did not. Although genetic literacy was higher among participants who had counselling, some risk factors were poorly understood. At the individual level, genetic literacy was associated with having counselling, ≤5 years ago, higher education, and family history of cancer. At the family level, genetic literacy was associated with having counselling, higher education, and a cancer diagnosis. The findings suggest that specific genetic information should be emphasized during consultations, and that at-risk relatives feel less informed about inherited cancer risk, even if information is shared within families. There is a need to increase access to genetic information among at-risk individuals.

scholarly journals BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study

2015 ◽  
Vol 24 (6) ◽  
pp. 881-888 ◽  
Author(s):  
Hildegunn Høberg-Vetti ◽  
Cathrine Bjorvatn ◽  
Bent E Fiane ◽  
Turid Aas ◽  
Kathrine Woie ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Cancer Patients ◽  
Genetic Counselling ◽  
Newly Diagnosed ◽  
Breast And Ovarian Cancer

The loved ones: families, intimates and patient autonomy

Legal Studies ◽  
2003 ◽  
Vol 23 (2) ◽  
pp. 332-358 ◽  
Author(s):  
Katherine O'Donovan ◽  
Roy Gilbar
Keyword(s):  
Medical Ethics ◽  
Genetic Information ◽  
Patient Autonomy ◽  
Medical Law ◽  
Central Values ◽  
Patients Rights ◽  
Law And Ethics ◽  
The Family ◽  
Legal Position ◽  
The Individual

Patient autonomy is one of the central values in medical ethics. It is generally understood as recognition of patients' rights as free individuals answerable only to themselves. This emphasis on the individual leaves open the question of the position of the patients' ‘loved ones’, that is of families and significant others. The authors examine this question in three areas of law and medical ethics. Organ donation offers an example of preference given by medical ethics to family views, notwithstanding an expressed wish of the deceased to donate, and the legal position protecting such a request. Decisions concerning the treatment of incompetent patients illustrate consideration for the family in medical ethics, but hesitations in both law and ethics in accepting family views once expressed. And the tension between the interests of patients and family members over the access to genetic information usually results in respecting the patient's right to confidentiality. This individualistic perception of autonomy, as adopted by medical law, overlooks the patient's relationships with others and is too narrow to face the complexities of human lives.

Identification of Women at Risk for Hereditary Breast and Ovarian Cancer in A Sample of 1000 Slovenian Women: A Comparison of Guidelines

2020 ◽  
Author(s):  
Urška Kotnik ◽  
Borut Peterlin ◽  
Luca Lovrecic
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Family History ◽  
High Risk ◽  
Breast And Ovarian Cancer ◽  
Nccn Guidelines ◽  
Family History Of Cancer ◽  
Slovenian Population ◽  
History Of ◽  
History Of Cancer

Abstract Background: An important number of breast and ovarian cancer cases is due to a strong genetic predisposition. The main tool for identifying individuals at risk is recognizing a suggestive family history of cancer. We present a prospective study on applying three selected clinical guidelines to a cohort of 1000 Slovenian women to determine the prevalence of at-risk women according to each of the guidelines and analyze the differences amongst the guidelines.Methods: Personal and family history of cancer was collected for 1000 Slovenian women. Guidelines by three organizations: National Comprehensive Cancer Network (NCCN), American College of Medical Genetics in cooperation with National Society of Genetic Counselors (ACMG/NSGC), and Society of Gynecologic Oncology (SGO) were applied to the cohort. The number of women identified, the characteristics of the high-risk population, and the agreement between the guidelines were explored. Results: NCCN guidelines identify 16.7 % of women, ACMG/NSGC guidelines identify 7.1 % of women, and SGO guidelines identify 7.0 % of women from the Slovenian population, while 6.2 % of women are identified by all three guidelines as having high-risk for hereditary breast and ovarian cancer.Conclusions: We identified 17.4 % of women from the Slovenian population as being at an increased risk for breast and ovarian cancer based on their personal and family history of cancer using all of the guidelines. There are important differences between the guidelines. NCCN guidelines are the most inclusive, identifying more than twice the amount of women as high-risk for hereditary breast and ovarian cancer as compared to the AGMG/NSCG and SGO guidelines in the Slovenian population.

Genetic counselling: a new diagnosis in the family

2020 ◽  
pp. 64-71
Author(s):  
Oliver Quarrell
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Genetic Disorders ◽  
Medical Doctors ◽  
Genetic Tests ◽  
The Family ◽  
Close Relatives ◽  
New Diagnosis

This chapter describes the process of genetic counselling in general but with an emphasis on Huntington’s disease. The chapter discusses issues for a new diagnosis in the family and describes the challenges of telling children that they are at risk. Medical doctors often lead genetic counselling teams as they are specially trained to give information about genetic disorders and explain the implications of genetic tests. The doctor or counsellor has to understand your particular circumstances and support you in a way that allows you to make your own decisions. A diagnosis of HD has implications for you and all your close relatives.

Clinical Considerations in the Management of Individuals at Risk for Hereditary Breast and Ovarian Cancer

2002 ◽  
Vol 9 (6) ◽  
pp. 457-465 ◽  
Author(s):  
Mark E. Robson
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Clinical Management ◽  
Management Strategies ◽  
Breast And Ovarian Cancer ◽  
Brca1 And Brca2 ◽  
Hereditary Risk ◽  
Increased Risk ◽  
Post Test ◽  
Clinical Considerations

Background Hereditary predisposition to breast and ovarian cancer, most commonly due to germline mutations in BRCA1 and BRCA2, has been recognized for many years. The optimal clinical management of individuals with such a predisposition is not yet completely defined. Methods The current literature regarding the clinical management of individuals at risk for hereditary breast and ovarian cancer was reviewed. Results Women with germline BRCA1 or BRCA2 mutations are at substantially increased risk for breast and ovarian cancer, although the risks may not be as high as originally reported. Current surveillance options are restricted in their effectiveness by both host and tumor factors as well as limitations of the techniques. Surgical prevention options, while effective, may be complicated by physical or psychological morbidity. Nonsurgical prevention options are under development. Conclusions The ability to define women as being at hereditary risk for breast and ovarian cancer facilitates the use of specialized surveillance and prevention strategies. Genetic testing, which plays a role in defining risk, requires careful pre- and post-test counseling to discuss the limitations of testing itself and available management strategies.

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