Genetic counselling in the era of genomic medicine
C Patch, A Middleton - British Medical Bulletin, 2018 - academic.oup.com
Background Genomic technology can now deliver cost effective, targeted diagnosis and
treatment for patients. Genetic counselling is a communication process empowering patients …
treatment for patients. Genetic counselling is a communication process empowering patients …
Renal genetics in Australia: kidney medicine in the genomic age
There have been few new therapies for patients with chronic kidney disease in the last
decade. However, the management of patients affected by genetic kidney disease is rapidly …
decade. However, the management of patients affected by genetic kidney disease is rapidly …
Genomic contextualism: shifting the rhetoric of genetic exceptionalism
NA Garrison, KB Brothers, AJ Goldenberg… - The American Journal …, 2019 - Taylor & Francis
As genomic science has evolved, so have policy and practice debates about how to
describe and evaluate the ways in which genomic information is treated for individuals …
describe and evaluate the ways in which genomic information is treated for individuals …
[HTML][HTML] Participant choices for return of genomic results in the eMERGE Network
C Hoell, J Wynn, LV Rasmussen, K Marsolo… - Genetics in …, 2020 - Elsevier
Purpose Secondary findings are typically offered in an all or none fashion when sequencing
is used for clinical purposes. This study aims to describe the process of offering categorical …
is used for clinical purposes. This study aims to describe the process of offering categorical …
Reconceptualizing autonomy for bioethics
Autonomy plays a central role in bioethics, but there is no consensus as to how we should
understand this concept. This paper critically considers three different conceptions of …
understand this concept. This paper critically considers three different conceptions of …
Whether, when, how, and how much? General public's and cancer patients' views about the disclosure of genomic secondary findings
JE Cléophat, M Dorval, Z El Haffaf, J Chiquette… - BMC Medical …, 2021 - Springer
Background Data on the modalities of disclosing genomic secondary findings (SFs) remain
scarce. We explore cancer patients' and the general public's perspectives about disclosing …
scarce. We explore cancer patients' and the general public's perspectives about disclosing …
Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach
Purpose Patients undergoing clinical exome sequencing (ES) are routinely offered the
option to receive secondary findings (SF). However, little is known about the views of …
option to receive secondary findings (SF). However, little is known about the views of …
Diverse parental perspectives of the social and educational needs for expanding newborn screening through genomic sequencing
GT Timmins, J Wynn, AM Saami, A Espinal… - Public health …, 2022 - karger.com
Objective: The aim of this study was to explore the parental views, attitudes, and preferences
of expanded newborn screening (NBS) through genomic sequencing. Study Design: We …
of expanded newborn screening (NBS) through genomic sequencing. Study Design: We …
[HTML][HTML] Genomic sequencing identifies secondary findings in a cohort of parent study participants
ML Thompson, CR Finnila, KM Bowling, KB Brothers… - Genetics in …, 2018 - Elsevier
Purpose Clinically relevant secondary variants were identified in parents enrolled with a
child with developmental delay and intellectual disability. Methods Exome/genome …
child with developmental delay and intellectual disability. Methods Exome/genome …
Managing Pandora's box: familial expectations around the return of (future) germline results
LM Johnson, BN Mandrell, C Li, Z Lu… - AJOB Empirical …, 2022 - Taylor & Francis
Background Pediatric oncology patients are increasingly being offered germline testing to
diagnose underlying cancer predispositions. Meanwhile, as understanding of variant …
diagnose underlying cancer predispositions. Meanwhile, as understanding of variant …