Join us for Part One of our captivating webinar series: "Advancements in Genomic Medicine: Navigating Health and Equity." 

📅 September 10, 2024

⏰ 12 pm – 2:00 pm ET

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🌐 How to Register:

1. Click the "Content" tab, and select the webinar you want to attend.
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Hereditary Cancer Testing: How do we Scale Access, Improve Uptake and Equity?

September 10, 2024 | 12:00 – 1:00 pm ET

Description:

Expanding treatment utility and genetic testing criteria has led to an increased demand for genetic testing for germline cancer susceptibility. To meet the demand, alternative models of service delivery for both index and cascade genetic testing have been adopted. These include initiation of testing by non-genetics professionals, reflexive tumour testing, group genetic counselling, and use of patient-led platforms to support or supplement pretest counseling, return of results and management support. 

It has also become evident that referral and uptake of genetic testing has been uneven across populations grouped by self-reported ethnicities, and with disparities seen in both index and cascade genetic testing.

This session will focus on understanding the drivers of the rise in hereditary cancer testing, barriers to access and solutions that are being implemented. Genetic professionals and scientists from the publicly-funded health system of Canada, and the mixed health system of the US will describe their experiences developing and implementing alternative models of care, including digital and technological approaches and share insights on how these approaches can improve equitable access to testing. 

Dr. Kelly Metcalfe, a Nursing Professor and Scientist (University of Toronto, Canada), will begin by describing the increasing demand for genetic testing in oncology and the delivery of rapid genetic testing. To highlight a systematic process to identify hereditary cancer patients, Dr. Alanna Rahm, a Genetic counselor, behavioral & implementation scientist (Geisinger Health System, USA – ACMG Member), will review the implementation of universal Lynch syndrome screening of colon and endometrial cancers across multiple health care systems in the US. To introduce patient-led approaches to hereditary cancer testing, Dr. Yvonne Bombard, a genomics health services researcher (Unity Health Toronto, Canada - ACMG Non-Member, GIM Open Editor), will discuss development of patient platforms to support pretest counseling and return of results for mainstreaming, cascade testing and cancer genomic screening programs.

To review advances in cascade testing, Dr. Gemma Campbell-Salome, a health communication scientist (Geisinger Health System, USA – ACMG Member), will discuss examples of facilitating cascade screening through chatbots, direct contact approaches and other family communication strategies. Finally, Dr. Kasmintan Schrader, co-Medical Director of BC Cancer’s Hereditary Cancer Program (University of British Columbia, Canada), will review a technological advance in the ability to assign parent-of-origin to any autosomal variant and discuss how this may improve cascade genetic testing efficiencies and uptake. 

These presentations will provide attendees with an overview of cutting-edge alternative models of service delivery, digital and technological approaches to help scale access to hereditary cancer testing and improve uptake and equity.

Target Audience

All healthcare professionals interested in the diagnosis, management, treatment, and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting is targeted for the following professionals:

• Medical and clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
• Laboratory directors and technicians who conduct genetic testing.
• Researchers involved in the discovery of genetic disorders and treatments.
• Clinical, laboratory and research trainees of genetics and all biomedical sciences.
• Any healthcare and public health professionals who have an interest in medical and clinical genetics and genomics.
• Advocates for patients with genetic conditions and their families.

Agenda

Presentation followed by live Q&A.

Learning Objectives

At the conclusion of this session, participants should be able to:

1. Discuss the drivers behind the increasing demand for hereditary cancer genetic testing.
2. Consider the current inequities and the barriers to access hereditary cancer genetic testing.
3. Review systematic approaches to hereditary cancer genetic testing in different jurisdictions.
4. Recognize digital approaches to hereditary cancer information sharing between patients, providers, and families.
5. Consider the technological advance of parent-of-origin-aware genomic analysis and the implications for cascade testing.

Meet the Faculty

Alanna Rahm, PhD, MS, CGC, Program Director in the Division of Genomic Medicine at NHGRI

Gemme Campbell-Salome, PhD, MA, Geisinger

Kelly Metcalfe, RN, PhD, Women's College Research Institute

Kasmintan Schrader, MBBS, PhD, FRCPC, DABMGG, University of British Columbia

Yvonne Bombard, PhD, Unity Health Toronto

Achieving Health Equity in Genomic Medicine Research and Practice

September 10, 2024 | 1:00 – 2:00 pm ET

Description:

The rate of genomic discovery has greatly outpaced its translation into clinical and public health settings. It typically takes nearly two decades for only 14% of findings to move from bench to bedside with patients receiving only 55% of the recommended care. This gap is even more pronounced in underserved populations. Implementation science is the study of how to effectively integrate evidence- based practices into clinical and public health settings to improve health outcomes. This field is particularly crucial in genomic medicine, where unique challenges impede the translation of research into practice. Implementation science can also advance diversity, equity, and inclusion by centering health equity in measurements and frameworks that guide implementation research and practice. In this session, we will hear from five experts about how implementation science has been used in their research to advance health equity in genomic medicine. Dr. Caitlin Allen will describe how a pragmatic, mixed-methods approach has been used to develop infrastructure to support recruitment of diverse populations into a population genomic screening effort for 100,000 individuals. Dr. Laura Milko will share findings about how community engagement and genetic literacy support the equitable implementation of research about age- based genetic screening for actionable conditions in children at intervention-oriented clinical visits. Dr. Megan Roberts will present qualitative research findings from 11 population genetic screening programs across the US, describing implementation strategies that have been employed to promote representative participation in these clinical offerings. Dr Stephanie Best will share her work on assessing geographically equitable uptake of genomic testing in Australia using a Geographical Information Systems approach. Dr. Natalie Taylor will discuss her research to support oncologists in metro, regional, and remote locations of Australia to use complex genomic sequencing. In this work she will describe the results of three co-designed support models and implementation strategies. Following these brief talks, we will have a brief overview of the field of implementation science and a moderated panel discussion (led by Dr. Alana Kulchak Rahm). There will be time for audience questions to hear from these experts about best practices for researchers and practitioners who wish to apply implementation science to their health equity work in genomic medicine. The moderator will facilitate a panel discussion between speakers and attendees to explore ways in which implementation science can advance health equity. We will discuss: 1. Best practices for the equitable implementation of genomics in research and clinical settings: what have been the speakers’ greatest research learnings on this topic? 2. What are the remaining barriers for implementation science, health equity and public health genomics? How might we address them? 3. How can researchers and practitioners apply implementation science principles to promote equitable implementation within their settings? 4. An open Q&A session for audience members to ask questions and engage in further discussion.

Target Audience

All healthcare professionals interested in the diagnosis, management, treatment, and prevention of genetic conditions and increasing their understanding of the genetic basis of common, chronic health problems affecting both children and adults will find the programming applicable to their practice. The ACMG Annual Meeting is targeted for the following professionals:

• Medical and clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
• Laboratory directors and technicians who conduct genetic testing.
• Researchers involved in the discovery of genetic disorders and treatments.
• Clinical, laboratory and research trainees of genetics and all biomedical sciences.
• Any healthcare and public health professionals who have an interest in medical and clinical genetics and genomics.
• Advocates for patients with genetic conditions and their families.

Agenda

Presentations followed by live Q&A. 

Learning Objectives

At the conclusion of this session, participants should be able to:

1. Describe how inequity in genomic medicine impairs scientific progress and patient care.
2. Define implementation science (IS) research, practice, and evaluation.
3. Describe how IS can advance health equity in genomic medicine research and clinical care.
4. Discuss how IS and health equity frameworks can build upon an evidence base to improve the implementation of genomics.
5. Identify key implementation outcomes for assessing the equitable translation of genomics into public health care.

Meet the Faculty:
Alanna Rahm, PhD, MS, CGC,Genomic Medicine at NHGRI
Caitlin Allen, PhD, MPH, Medical University of South Carolina
Laura Milko, PhD, University of North Carolina at Chapel Hill
Megan Roberts, PhD, University of North Carolina
Natalie Taylor, PhD, University of New South Wales