#189 Building Inclusive Pedigrees with PhenoTips

To celebrate Pride month our next two episodes will be focused on the LGBTQIA+ community. In this episode we explore building inclusive pedigrees with Dr. Orion Buske and Erica Peacock of Phenotips.The PhenopTips name might seem familiar as our host, Kira Dineen, is also the host of the PhenoTips Speaker Series, which is a live webinar about genetic topics (including a live Q&A), then it’s released as a podcast. Watch previous Speaker Series here, or search “PhenoTips Speaker Series” where you get your podcasts to listen!As a queer member of the LGBTQIA+ community, our host Kira Dineen is so excited to talk about building inclusive software for genetic counseling in this episode, especially in the spirit of Pride month! Next week we are sharing the recording of yesterday’s June Installment of PhenoTips Speaker series, which pairs very nicely with this conversation as it’s about improving gender-affirming care in genetic counseling and features two fellow genetic counselors and patient advocate! Dr. Orion Buske is the CEO of Phenotips. He holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking. He co-leads the Global Alliance for Genomics and Health Pedigree standard working group.Erica Peacock is the genetics workflow consultant at PhenoTips. She holds an MSc in Genetic Counselling from the University of British Columbia, and she is certified by the American Board of Genetic Counseling. On This Episode We Discuss:Why it’s important to denote someone’s sex assigned at birthIncorporate same sex couples utilizing a donor or donors to concieve in pedigreesBest ways to indicate that someone is transgender on pedigreesRepresenting gender non-conforming or non-binary people on pedigreesMaking note of family members’s pronouns PhenoTips features to support genetics professionals and the LGBTQIA+ community How pre-visit questionnaire aids with time saving accurate pedigrees Check out the GH4GH that Orion mentioned during the interview, including those meeting notes. Be sure to follow PhenoTips on Twitter, Facebook. We also recommend following Orion Buske and Erica Peacock on Twitter. Stay tuned for the next new episode of DNA Today on June 24, 2022 where we’ll be dropping an installment of the PhenoTips Speaker Series! The topic of this week’s series is building gender affirming care in genetic counseling! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical tri