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List of Publications

Genetics Adviser Founder and CEO, Dr. Yvonne Bombard, has over 15 years of expertise in researching the role of digital solutions in supporting the genetic testing process and advancing the delivery genomics services. 

 

Her extensive research has focused on the integration of digital tools to support clinical decision-making, their impact on the patient journey, and addressing the associated psychosocial, ethical, and equity challenges in genetic testing. 

 

Alongside her co-founder, Marc Clausen, Dr. Bombard has contributed to numerous publications and  clinical trials in collaboration with leading global industry partners. Below is a comprehensive list of publications outlining the development of  Genetics Adviser and the various global projects that have used Genetics Adviser in their methodology.
 

Two-step offer and return of multiple types of additional genomic findings to families after ultrarapid trio genomic testing in the acute care setting: a study protocol

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

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Genome screening, reporting, and genetic counseling for healthy populations

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The development and usability of 'The Genetics Navigator': a digital solution for adult and paediatric clinical genetics services

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Studies On Genetics Adviser

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

European Journal of Human Genetics (2018) 26:984–995

 

Evaluation of a decision aid for incidental genomic results, the Genomics ADvISER: protocol for a mixed methods randomised controlled trial

BMJ Open 2018;8:e021876

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Development of patient “profiles” to tailor counseling for incidental genomic sequencing resultsEuropean Journal of Human Genetics (2019) 27:1008–1017

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How digital tools can advance quality and equity in genomic medicine

Nature Reviews 2020; 21: 505-506


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

Genet Med. 2020; 22(4): 727–735

 

The role of digital tools in the delivery of genomic medicine: enhancing patient-centered care

Genet Med. 2021; 23(6): 1086-1094

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Digital Health-Enabled Genomics: Opportunities and Challenges.

American Journal of Human Genetics 109, 1190–1198, July 7, 2022

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Patient-facing digital tools for delivering genetic services: a systemic review

J Med Genet 2022;0:1–10.

 

Genetics Adviser: a protocol for a mixed-methods randomised controlled trial evaluating a digital platform for genetics service delivery

BMJ Open 2022;12:e060899

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Digital health tools in Genomics: Advancing Diversity, Equity, and Inclusion

Public Health Genomics 2023;26:194–200

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Genetics providers' prospectives on the use of digital tools in clinical practice

Genetics in Medicine (2024) 26, 101122

 

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing

Genetics in Medicine Open (2024) 2, 101814

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