Jan Friedman

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Professor

The University of British Columbia

Canada

Research Interests

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About

Jan Friedman is a Professor at the University of British Columbia, Canada. His research focuses on genetic counseling, the implementation of digital tools in clinical genetics, and the cost-effectiveness of genome-wide sequencing in pediatric populations. His recent work examines the ethico-legal implications of genetic counseling practices and explores innovative approaches to genomic service delivery.

Recent Grants

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Long-read sequencing and bioinformatics analysis to identify cryptic genetic mutations in patients with undiagnosed intellectual disability

Open Date: 2020-04-01

Close Date: 2023-03-31

Grant: Close

Improving whole genome sequencing as a clinical test for genetic causes of intellectual disability

Open Date: 2017-04-01

Close Date: 2018-03-31

Grant: Close

CAUSES - Clinical assessment of the utility of sequencing and evaluation as a service

Open Date: 2016-10-01

Close Date: 2019-09-01

Grant: Close

Canadian International Data Sharing Initiative (Can-SHARE)

Open Date: 2015-07-01

Close Date: 2018-06-30

Grant: Close

Canadian International Data Sharing Initiative (Can-SHARE)

Open Date: 2015-07-01

Close Date: 2018-06-30

Articles (19)

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2024

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2022

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2022

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2022

Collaborators (16)

Laura J Klesse

University of Texas Southwestern Medical School

UNITED STATES

Jan Friedman

Research Interests

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About

Recent Grants

Articles (19)

Genetic counselors outside of the genetics clinic: Roles, practices, and ethico‐legal implications in light of lagging legal recognition across Canada

Where there is no genetic counselor: An online decision-aid supports the majority of parents’ diagnostic genomic testing choices for their children

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada.

Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations

Genetics providers’ perspectives on the use of digital tools in clinical practice

Is it time to re-think how we look for teratogenic effects in exposure cohort studies?

Real-world diagnostic outcomes and cost-effectiveness of genome-wide sequencing for developmental and seizure disorders: Evidence from Canada

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications

Should secondary pharmacogenomic variants be actively screened and reported when diagnostic genome-wide sequencing is performed in a child?

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis

Bob Brent: Medical expert, expert medical witness, and expert on medical expert witnessing

Finding the sweet spot: a qualitative study exploring patients’ acceptability of chatbots in genetic service delivery

After genomic testing results: Parents’ long-term views

Correction to: The stepwise process of integrating a genetic counsellor into primary care (European Journal of Human Genetics, (2022), 30, 7, (772-781), 10.1038/s41431-022-01040-x)

Novel <i>CIC</i> variants identified in individuals with neurodevelopmental phenotypes

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies

Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward

Linked-read sequencing for detecting short tandem repeat expansions

Collaborators (16)

Laura J Klesse

Linlea Armstrong

M. E. Suzanne Lewis

Lorne Clarke

Mary Connolly

James Buchanan

Patricia Birch

Jaishri Blakeley

Qiumin Tan

Jehannine Austin

Alison Elliott

Kaleb Yohay

William Gibson

John Buckell

Ma’n H Zawati

Millan S. Patel

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