The clinical utility of exome and genome sequencing across clinical indications: a systematic review

S Shickh, C Mighton, E Uleryk, P Pechlivanoglou… - Human genetics, 2021 - Springer
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 …

[HTML][HTML] Digital health-enabled genomics: opportunities and challenges

Y Bombard, GS Ginsburg, AC Sturm, AY Zhou… - The American Journal of …, 2022 - cell.com
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 …

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 …

Effectiveness of the Genomics ADvISER decision aid for the selection of secondary findings from genomic sequencing: a randomized clinical trial

Y Bombard, M Clausen, S Shickh, C Mighton… - Genetics in …, 2020 - nature.com
Purpose To evaluate the effectiveness of the Genomics ADvISER (www. genomicsadviser.
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 …

[HTML][HTML] Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study

C Lewis, S Sanderson, M Hill, C Patch… - European Journal of …, 2020 - nature.com
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 …

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 …

The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results

Y Bombard, M Clausen, C Mighton… - European Journal of …, 2018 - nature.com
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 …

DNA-based screening and personal health: a points to consider statement for individuals and health-care providers from the American College of Medical Genetics …

LJH Bean, MT Scheuner, MF Murray… - Genetics in …, 2021 - nature.com
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 …

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 …