This webinar, moderated by Patrick Short, CEO and co-founder of Sano Genetics, and featuring two panelists, Jessi Keavney and Krista Qualmann, discussed the importance of genetic testing in understanding an individual's risk for Parkinson's disease.
The link to the full webinar is here; a brief summary is below for easy reference.
Dr. Patrick Short, PhD is the Co-founder and CEO of Sano Genetics. Sano’s platform helps clinical development teams to move 10x faster at 5x lower cost by automating entire workflows for protocols, consent, prescreening, genetic testing, and matchmaking with trial sites.
Jessi Keavney is a genetic Parkinson's disease advocate with a strong background in research. She has been involved in numerous studies and conferences related to the subject matter.
Krista Qualmann is an experienced genetic counsellor at Grey Genetics, specialising in neurology and neurogenetics. She is committed to providing personalised patient care and creating an environment where patients can ask any question, big or small. Krista's genetic counselling philosophy centers around meeting the patient where they are at and placing their genetic test results, medical history, and/or family history into context to find the true impact of genetic information for the patient and their family.
Precision medicine uses personal factors to decide how best to treat medical conditions. Genetic testing is one such personal factor. Krista Qualmann explained that a genetic test looks for changes in a person's DNA, often called genetic mutations or variants. While most variants do not cause any health problems, some can lead to health issues or increase the risk of a condition.
Parkinson's disease is a condition that affects the nervous system and causes tremors, stiffness, and difficulty with movement. Genetic mutations, such as LRRK2 G2019S, have been linked to Parkinson's disease, and individuals with these mutations are more likely to develop the condition. However, Krista emphasized that having a genetic mutation does not necessarily mean that an individual will develop Parkinson's disease. Parkinson's disease is caused by a combination of genetic and non-genetic risk factors, such as environmental factors; genetics is only one piece of the puzzle.
What is the patient perspective on the genetics of Parkinson’s disease?
Jessi Keavney shared her personal experience with genetic testing and how she learned that she was a LRRK2 G2019S carrier. She emphasised the importance of managing expectations when sharing genetic test results with healthcare providers and family members, as healthcare providers may not have specific information on a genetic variant, and family members may react differently to the news. Jessi suggested speaking to a genetic counsellor, who can interpret genetic test results and help family members decide if or when they want to get tested.
Jessi then shared her personal experience of sharing her test results with her family and how her oldest son decided to get tested after learning about her genetic variant. Genetic mutations are passed on through families, and there may be other family members who have the same genetic mutation. Family members may approach the risk and what to do with it very differently from one another, and it is essential to understand and prepare for the different reactions.
Summary
This webinar provided important information on genetic testing and its implications for Parkinson's disease from both a genetic counsellor and a patient. The discussions emphasised the importance of genetic testing as a personal factor in precision medicine, the role of genetic mutations in Parkinson's disease, and the importance of sharing genetic test results with healthcare providers and family members. The need to manage expectations when sharing test results and the importance of speaking to a genetic counsellor were also highlighted. The discussion was informative and insightful, providing a deeper understanding of how best to approach genetic testing for Parkinson’s disease.