#316 Cascade Genetic Testing: How “Connect My Variant” Empowers Families

2024/11/22

DNA Today: A Genetics Podcast

Brian Shirts

Katy Meta

Brian Shirts：Connect My Variant是一个非营利组织，旨在通过促进家庭成员间的沟通来预防遗传性疾病。该组织主要通过帮助人们进行级联基因检测来实现这一目标，尤其针对遗传性癌症和心肌病等需要家庭参与的疾病。Connect My Variant提供免费的家谱辅助服务，并培训志愿者（大多是遗传咨询专业的学生）作为家庭外展导航员，帮助人们联系家人进行基因检测，但不会提供医疗建议。该组织的研究表明，如果两个人拥有相同的基因变异，他们有90%的几率拥有共同的祖先，将这些个体联系起来可以促进家族外展。Connect My Variant的目标是扩大服务范围，不局限于癌症，也包括其他遗传性疾病，只要可以进行预防干预。该组织还致力于与遗传咨询师和医疗系统合作，以更好地整合其服务，提高级联基因检测的效率。 Katy Meta：作为Connect My Variant的家庭外展导航员，我的工作是帮助患有遗传性癌症风险的个人与亲属分享敏感的遗传信息，并为整个过程提供情感支持。这包括帮助人们撰写信件联系疏远的亲属，并提供建议，例如从关系密切的家人开始，循序渐进地分享信息，避免信息过载。我还强调自己并非遗传咨询师，只是帮助人们传递信息。在与人们交流的过程中，我发现许多人关注的是癌症治疗和遗传变异带来的情绪负担，以及建立与其他拥有相同基因变异的人的社区感。Connect My Variant的服务帮助人们获得遗传信息，从而做出预防性医疗决策，例如进行预防性手术或增加筛查频率。我个人认为，Connect My Variant的志愿者工作对于未来的遗传咨询师来说是一次宝贵的经验，可以帮助他们学习与病人沟通、处理家族史信息等技能，并学会在与病人交流的过程中，根据病人的需求和意愿调整沟通策略。

Deep Dive

Key Insights

Why is cascade genetic testing important for families?

Cascade genetic testing is crucial because it helps family members with a 50% chance of inheriting a pathogenic variant to get genetic testing and potentially life-saving preventative care. This is especially important for adult-onset diseases where early detection can significantly improve outcomes.

How does Connect My Variant support individuals in sharing genetic information with their families?

Connect My Variant provides trained family outreach navigators who help individuals communicate sensitive genetic information to their relatives. These navigators offer emotional support, practical tips, and assistance in reaching out to distant or estranged family members.

What are the benefits of connecting individuals with the same genetic variants?

Connecting individuals with the same genetic variants helps them feel less alone and provides a support network. It also allows them to share experiences, treatment options, and resources, which can be particularly beneficial for those dealing with rare or complex conditions.

Why is it challenging to find common ancestors for individuals with the same genetic variant?

Finding common ancestors for individuals with the same genetic variant is often challenging and requires significant genealogical research. While some groups have traced their ancestry back to the 1600s and 1700s, this is the exception rather than the rule and can be a time-consuming process.

How does Connect My Variant assist with cardiogenetics and other hereditary diseases?

Connect My Variant has expanded its mission to include hereditary diseases beyond cancer, such as cardiomyopathies and arrhythmias. They provide support for cascade testing and family outreach, helping individuals with these conditions to inform their relatives and access preventative care.

What is the role of family outreach navigators in Connect My Variant?

Family outreach navigators are volunteers who help individuals with hereditary disease risks to reach out to their relatives for genetic testing. They offer emotional support, practical advice, and follow-up to ensure that family members receive the necessary information and care.

How does Connect My Variant ensure that individuals receive appropriate genetic counseling and testing?

Connect My Variant does not provide healthcare but helps individuals find genetic counselors and testing centers. They refer family members to the NSGC Find a Genetic Counselor website and ensure that individuals have access to the necessary resources for genetic testing and counseling.

What is the significance of the co-branded landing page for health systems?

The co-branded landing page allows health systems to integrate Connect My Variant into their services, providing a seamless experience for patients. It helps track the impact of genetic counseling and family outreach, benefiting both the health system and the community by improving preventative care.

What skills do volunteers gain from working with Connect My Variant?

Volunteers gain valuable skills in patient communication, data management, and genetic testing coordination. They learn to connect with people on a personal level, meet them where they are, and provide emotional support, which are essential skills for future genetic counselors.

Chapters

Connect My Variant is a non-profit organization that helps families navigate cascade genetic testing. They provide training and support to family outreach navigators, who help individuals share genetic information with relatives. The organization focuses on preventing hereditary diseases through improved family communication.

Connect My Variant's mission is to prevent hereditary disease by bringing families together.
They provide free genealogy assistance and training for family outreach coordinators.
Family outreach navigators are primarily pre-genetic counseling students who provide support and guidance but do not offer medical advice.

Shownotes Transcript

Discover how Connect My Variant, a groundbreaking nonprofit, is revolutionizing the way families share crucial genetic information. Dr. Brian Shirts and Katy Meta reveal how their organization bridges the gap between genetic testing and family communication, potentially saving lives through early detection and prevention.

Brian Shirts, M.D.) is ConnectMyVariant’s President, Associate Professor of Laboratory Medicine and Pathology, and Director of the Institute for Public Health Genetics at the University of Washington. His professional goal is to help prevent all hereditary cancer. In his clinical role, he supports a large range of clinical genetic testing from cell-free testing for prenatal screening to exome testing to hereditary cancer testing. Dr. Shirts earned his M.D. and Ph.D. at the University of Pittsburgh. He is board certified in both Clinical Pathology and Molecular Genetic Pathology. His clinical and research interests include improving strategies for detection and classification of rare mutations, clinical classification of rare genetic variants of uncertain significance, particularly variants in familial cancer genes; improving the use of complex and multifactorial clinical information, with special interest in personalized healthcare using genetic information and research on the storage and communication of genetic information in the healthcare setting.

Kathryn (Katy) Meta) volunteers as a Family Outreach Navigator at ConnectMyVariant. Katy has volunteered with a long list of organizations including the Cystic Fibrosis Foundation, the National Eating Disorders Association (NEDA), ArtStream, CureMSD and others. She was interviewed on NPR’s Morning Edition about the importance of human connection on the NEDA Helpline, as well as the consequences of their decision to replace Helpline volunteers with an AI chatbot. She is in her Senior year at Dickson College earning her BS in Biology and minor in Psychology with a Health Studies certificate. She is interested in furthering her education with a Master's degree in Genetic Counseling.

Key Highlights:

Cascade genetic testing enables families to proactively manage hereditary conditions
Trained navigators help individuals share sensitive genetic information with relatives
Connecting people with the same genetic variants creates supportive communities
Focus on cardiogenetics demonstrates the life-saving potential of early awareness
Family Outreach Navigators provide crucial follow-up support

We spotlight the emotional and practical benefits of genetic information sharing, from preventing inherited diseases to fostering understanding among family members. Whether you're curious about genetic testing or looking to better understand your family's health history, this conversation offers invaluable insights into the future of personalized medicine.

During the interview the resource FindAGeneticCounselor.com) was recommended, and excitingly it is newly available in Spanish).

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