The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for …

FH Menko, JA Ter Stege, LE van der Kolk, KN Jeanson… - Familial cancer, 2019 - Springer
Following the identification in a proband of a germline BRCA1/BRCA2 mutation in hereditary
breast-ovarian cancer (HBOC) or a DNA mismatch repair gene mutation in Lynch syndrome …

Interventions facilitating family communication of genetic testing results and cascade screening in hereditary breast/ovarian cancer or lynch syndrome: a systematic …

V Baroutsou, ML Underhill-Blazey… - Cancers, 2021 - mdpi.com
Simple Summary In general, 5–20% of all cancers are due to pathogenic variants in cancer
genes that are passed down in the family. It is recommended that blood relatives of …

Beyond individualism: Is there a place for relational autonomy in clinical practice and research?

ES Dove, SE Kelly, F Lucivero, M Machirori… - Clinical …, 2017 - journals.sagepub.com
The dominant, individualistic understanding of autonomy that features in clinical practice
and research is underpinned by the idea that people are, in their ideal form, independent …

Healthcare professionals' and patients' perspectives on consent to clinical genetic testing: moving towards a more relational approach

GN Samuel, S Dheensa, B Farsides, A Fenwick… - BMC Medical …, 2017 - Springer
Background This paper proposes a refocusing of consent for clinical genetic testing, moving
away from an emphasis on autonomy and information provision, towards an emphasis on …

Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals

S Dheensa, A Lucassen, A Fenwick - Journal of Genetic Counseling, 2018 - Springer
European genetic testing guidelines recommend that healthcare professionals (HCPs)
discuss the familial implications of any test with a patient and offer written material to help …

The communication chain of genetic risk: analyses of narrative data exploring proband–provider and proband–family communication in hereditary breast and ovarian …

C Pedrazzani, M Aceti, R Schweighoffer… - Journal of personalized …, 2022 - mdpi.com
Low uptake of genetic services among members of families with hereditary breast and
ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic …

Proband-mediated interventions to increase disclosure of genetic risk in families with a BRCA or Lynch syndrome condition: a systematic review

AL Young, A Imran, MJ Spoelma, R Williams… - European Journal of …, 2023 - nature.com
Interventions to assist family communication about inherited cancer risk have the potential to
improve family cancer outcomes. This review aimed to evaluate the efficacy of proband …

Communication of information about genetic risks: putting families at the center

Á Mendes, A Metcalfe, M Paneque, L Sousa… - Family …, 2018 - Wiley Online Library
Genetic information is a family affair. With the expansion of genomic technologies, many
new causal genes and variants have been established and the potential for molecular …

[HTML][HTML] Re-imagining 'the patient': Linked lives and lessons from genomic medicine

S Weller, K Lyle, A Lucassen - Social Science & Medicine, 2022 - Elsevier
How 'the patient'is imagined has implications for ethical decision-making in clinical practice.
Patients are predominantly conceived in an individualised manner as autonomous and …

Patient and family preferences on health system-led direct contact for cascade screening

NB Henrikson, P Blasi, M Figueroa Gray… - Journal of Personalized …, 2021 - mdpi.com
Health benefits to relatives of people at known genetic risk for hereditary cancer syndromes
is key to realizing the promise of precision medicine. We conducted a qualitative study to …