The clinical utility of exome and genome sequencing across clinical indications: a systematic review
Exome sequencing and genome sequencing have the potential to improve clinical utility for
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …
patients undergoing genetic investigations. However, evidence of clinical utility is limited to …
[HTML][HTML] Digital health-enabled genomics: opportunities and challenges
Digital health solutions, with apps, virtual care, and electronic medical records, are gaining
momentum across all medical disciplines, and their adoption has been accelerated, in part …
momentum across all medical disciplines, and their adoption has been accelerated, in part …
Cascades of care after incidental findings in a US national survey of physicians
I Ganguli, AL Simpkin, C Lupo, A Weissman… - JAMA network …, 2019 - jamanetwork.com
Importance Incidental findings on screening and diagnostic tests are common and may
prompt cascades of testing and treatment that are of uncertain value. No study to date has …
prompt cascades of testing and treatment that are of uncertain value. No study to date has …
Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial
Purpose To evaluate the effectiveness of the Genomics ADvISER (www. genomicsadviser.
com) decision aid (DA) for selection of secondary findings (SF), compared with genetic …
com) decision aid (DA) for selection of secondary findings (SF), compared with genetic …
[HTML][HTML] The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care
S Shickh, SA Rafferty, M Clausen, R Kodida… - Genetics in …, 2021 - Elsevier
Purpose Alternative models of genetic counseling are needed to meet the rising demand for
genomic sequencing. Digital tools have been proposed as a method to augment traditional …
genomic sequencing. Digital tools have been proposed as a method to augment traditional …
[HTML][HTML] Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study
Abstract The 100,000 Genomes Project is a hybrid clinical and research project in which
patients and parents are offered genome sequencing for cancer and rare and inherited …
patients and parents are offered genome sequencing for cancer and rare and inherited …
Genetics adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery
S Shickh, D Hirjikaka, M Clausen, R Kodida… - BMJ open, 2022 - bmjopen.bmj.com
Introduction The high demand for genetic tests and limited supply of genetics professionals
has created a need for alternative service delivery models. Digital tools are increasingly …
has created a need for alternative service delivery models. Digital tools are increasingly …
The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results
Guidelines recommend patients be informed of their incidental results (IR) when undergoing
genomic sequencing (GS), yet there are limited tools to support patients' decisions about …
genomic sequencing (GS), yet there are limited tools to support patients' decisions about …
DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics …
Clinicians are encouraged to document the reasons for the use of a particular procedure or
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
test, whether or not it is in conformance with this statement. Clinicians also are advised to …
Quality of life drives patients' preferences for secondary findings from genomic sequencing
C Mighton, L Carlsson, M Clausen… - European Journal of …, 2020 - nature.com
There is growing impetus to include measures of personal utility, the nonmedical value of
information, in addition to clinical utility in health technology assessment (HTA) of genomic …
information, in addition to clinical utility in health technology assessment (HTA) of genomic …