Our Research

Explore Genome Medical’s research to see how we’re increasing access to genetics care through tech-enabled solutions and contributing to advances in the field. Browse our scientific publications, posters, and presentations.

Featured Research

2025
Enhancing Clinical Trial Engagement: A High-Touch, Multimodal Approach Led by GCs to Improve Patient Engagement

National Society of Genetic Counselors Annual Conference

2025
Genetic Testing Outcomes in a Nationwide Retinitis Pigmentosa Cohort

National Society of Genetic Counselors Annual Conference

2025
Generative AI: A partner for genetic counseling?

Trends in Genetics

2025
A nationwide telehealth program enabled genetic counseling and genetic testing for 750 ATTR-CM patients over five years

American College of Cardiology Scientific Sessions

2025
A large language model (LLM) can accurately extract genetic testing data from unstructured clinical records with F-1 scores of 1.0 across multiple fields

ISPOR Conference

2025
Geno4ME Study: implementation of whole genome sequencing for population screening in a large healthcare system

NPJ Genomic Medicine

2025
Use of digital health tools with point-of-care testing improves access to genetic testing

Journal of Genetic Counseling

2024
Foundation-sponsored genetic counseling and testing program for spinocerebellar ataxia

American Academy of Neurology Annual Meeting

2024
Validation of a guidelines-based digital tool to assess the need for genetic testing

Hereditary Cancer in Clinical Practice

2024
Utilization of a third-party partnership in tele-genetic risk assessment program results in high patient satisfaction, rapid access to genetic counseling and testing, and timely release of results

Urology

2024
Real-world data from multiple institutions to assess the rate of bilateral mastectomy after genetics evaluations

American Society of Clinical Oncology Annual Meeting

2024
Digital education tool provided before genetic counseling improves understanding of genetic testing and is perceived favorably by patients

National Society of Genetic Counselors Annual Conference

2024
Rate of completion of hereditary risk assessment digital tool does not differ by age, race, ethnicity, or personal history but does vary by insurance type and delivery method

National Society of Genetic Counselors Annual Conference

2024
User experience of a hereditary risk assessment digital tool

National Society of Genetic Counselors Annual Conference

2024
Pre-visit education videos shorten pre-test visits and are perceived favorably by GCs and patients

National Society of Genetic Counselors Annual Conference

2024
Leveraging real-world data from multiple institutions to assess the uptake of risk-reducing salpingo-oophorectomy after genetic counseling

National Society of Genetic Counselors Annual Conference

2023
Validation of a guidelines-based brief patient-administered digital tool to assess the need for genetic testing

American Society of Clinical Oncology Annual Meeting

2023
A digital hereditary risk assessment tool increases identification of patients for genetic testing

The American Society of Breast Surgeons Annual Meeting

2023
Use of digital health tools with point-of-care testing improves access to genetic testing

Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Annual Meeting

2023
High rates of completion and short amount of time needed to complete genomics digital tools suggest they are usable and acceptable to older adults

National Society of Genetic Counselors Annual Conference

2023
Comparisons of assessments by a hereditary risk assessment digital tool and genetic counselors

National Society of Genetic Counselors Annual Conference

2023
High completion rate and positive patient feedback suggest a digital education tool for hereditary risk is helpful and usable

National Society of Genetic Counselors Annual Conference

2023
Validation of individual rules in a patient-facing digital tool that assesses the need for genetic testing

National Society of Genetic Counselors Annual Conference

2023
A patient-facing digital tool is efficient, usable, and effective at identifying patients with genetic risk

Molecular & Precision Medicine TriCon

2022
A third-party partnership in tele-genetic risk assessment program has high patient satisfaction, rapid access to genetic counseling and genetic testing, and timely release of results

Society of Urologic Oncology Annual Meeting

2022
A digital hereditary risk assessment tool efficiently identifies patients in need of genetic evaluation

National Society of Genetic Counselors Annual Conference

2022
Validation of individual rules in a patient-facing digital tool that assesses the need for genetic testing

National Society of Genetic Counselors Annual Conference

2021
A genetic-counseling-first, telehealth service delivery model for pediatric patients

National Society of Genetic Counselors Annual Conference

2021
Scheduling patients via text messages is more effective than phone and saves genetic counseling assistant time

National Society of Genetic Counselors Annual Conference

2021
Validation of a guidelines-based digital tool to assess the need for genetic testing

National Society of Genetic Counselors Annual Conference

2021
Data-informed decisions on which history questions to include in a digital tool to assess the need for genetic testing

National Society of Genetic Counselors Annual Conference

2021
Downstream clinical services resulting from genetic counseling

National Society of Genetic Counselors Annual Conference

2021
Before and during COVID-19: Genetic counselor preferences for modality of telehealth changed, but reimbursement did not

National Society of Genetic Counselors Annual Conference

2021
Genetic counselor experiences with telehealth before and after COVID-19

Journal of Genetic Counseling

2020
Increasing scale and throughput of telehealth genetic counseling, while maintaining high patient satisfaction

American Society of Reproductive Medicine Annual Conference

2020
Regional cancer center resolved a 9-month backlog in 6 weeks by partnering with a telehealth genetic counseling organization

National Society of Genetic Counselors Annual Conference

2020
Outcomes of healthy sequencing in a pediatric population

National Society of Genetic Counselors Annual Conference

2020
Genetic Counselors become established in a new position in 4 months, as indicated by decreases in documentation time

National Society of Genetic Counselors Annual Conference

2020
COVID workflow adjustments impact where, when, and how genetic counseling was delivered

National Society of Genetic Counselors Annual Conference

2019
Open the door and see who comes in: who self-refers to telegenetics services?

American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

2019
Improving genetic counselor efficiency while maintaining high patient satisfaction

National Society of Genetic Counselors Annual Conference

2018
Genetic counselors’ experiences and interest in telegenetics and remote counseling

American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting

2018
Genetic counselors' experiences and interest in telegenetics and remote counseling

Journal of Genetic Counseling

2018
Improving timely access to genetic counseling through an integrated third-party telehealth genetic counseling service

National Society of Genetic Counselors Annual Conference

2018
Patient and counselor perceptions of a telehealth genetic counseling

World Congress of Genetic Counseling