Genome Ally

At Genome Ally this past year, we turned our desire to serve patients into reality. Heading to #ASRM2024 in Denver, Colorado, I’m excited to showcase the incredible work we’ve done. By combining our unparalleled expertise with the strength of families facing genetic challenges and the desire of their fertility specialists to seek answers, we’ve achieved the fastest care for families seeking PGT-M in any practice, enabling families to move from wishing their children could be free of the devastating disease in their family to actively taking steps toward making it a reality. Join me tomorrow at 12:20 PM at the Colorado Convention Center, Mile High Ballroom 2C, as I discuss Advances in PGT: Understanding the Impact of Microdeletion and Microduplication Syndromes in Clinical Practice. I’ll share the stories of two of our patients who gracioudly contributed to advancing the field. Their trust in us fuels our mission to transform the future of reproductive genetic care. #asrm2024 #DreamToReality #fertility #ivf #grnetics #GenomeAlly

This Monday morning started like any other—I prepared for my first telemedicine appointment at Genome Ally with a couple from Texas, both carriers of cystic fibrosis, a genetic condition, eager to discuss their reproductive options. I logged in, but they didn’t show up. That’s rare, especially for families navigating genetic conditions. They always show up. So I stayed logged in and checked on them by email. After about 20 minutes, I received an email. They were in the emergency room (ER) after bringing their 2-year-old son at night, who had a high fever and an ear infection. Despite the long night, they still wanted to proceed with the consult. Without hesitation, we made it happen. The couple joined from the ER on their smartphone, their son in their lap feeling much better, while an ER nurse checked in on them. We discussed their next steps, and now they’re moving forward in planning for their next baby. This is the power of digital health—bringing essential care to families, no matter the circumstance. 💻👶 #GeneticConsultation #Telemedicine #ReproductiveHealth #DigitalHealth #CysticFibrosis #GenomeAlly

I feel so honored that at Genome Ally, families trust us with their most precious pursuit - children. They trust us with their most personal information. They stick around as we work hard to systematically solve the genetic issue. They hang in there as we deconstruct and then reconstruct the pieces of the puzzle. They are our strength and we are theirs. We are privileged that IVF doctors from around the country are collaborating with us to solve the most complex genetic cases so that patients can build their families with confidence. The wealth of knowledge we are gathering at Genome Ally pays forward as we work on the next complex case. Thank you to the families and physicians that collaborate with us. I am so excited to present Genome Ally’s most challenging case so far at ASRM Genetic Counseling Professional Group case conference on Sep 11. Alleigh (Allison) Boyd and Meghan Grow, MS, CGC will be presenting their challenging cases. My case is of a young non consanguineous couple that went through preimplantation genetic testing for aneuploidy (PGT-A) via a SNP based microarray PGT platform for their second IVF cycle and 7/7 embryos tested euploid but had large areas of loss of heterozygosity. All embryos were female. The couple was not related, having born and raised in different parts of US. Both of them were not donor conceived. They had a previous loss due to anencephaly where a prenatal microarray had showed a normal female with loss of heterozygosity in 3 chromosomes. They have a 2 year of daughter conceived previously by transfer of euploid embryo tested by NGS only. Carrier screening for 421 conditions showed the couple was carrier of 2 autosomal recessive conditions - Hermansky Pudlock Syndrome and Joubert Syndrome/ Meckel Syndrome type 2. When I gave them test results, they immediately recognized the symptoms of Hermansky Pudlock Syndrome. Apparently, their daughter had been struggling with ocular albinism and doctors hadn’t found a cause for it yet. As both partners are carriers of Hermansky Pudlock Syndrome, likely their daughter is affected that causes albinism and bleeding issues. Now they are working with her doctors. The couple wanted to do PGT-M testing for the two conditions. However, with large areas of loss of heterozygosity, there could be multiple other conditions that could match up in the couple. I was worried if we test the embryos for only 2 conditions, the child could be affected by some other disease that wasn’t tested on carrier screening. We ordered whole genome sequencing for both partners and I will be presenting results for the testing at the case conference. Ordering whole genome sequencing on a couple who does not have a disease except for loss of heterozygosity in embryos, is akin to exploring outer space. Can you guess what we would have found? This family stuck around with me for 5 months and there is a happy ending, so join us for the case conference. #GeneticPuzzle #PGT #FullPotential #CME

As I celebrate the victory of the women's gymnastics team winning gold at the Olympics, I'm reminded of the champions in genetics who support me in providing the best care for my patients at Genome Ally. I am proud of the professionals who work in this small but mighty field of reproductive genetics and want to acknowledge as many as I can. I can't help but celebrate them today and every day, as they process the many preimplantation genetic testing requests that I make, offer the right testing platform for each patient, sit through meetings as I question the raw data, comment on my social media posts and bring smiles to patients as they provide genetic counseling to those who are navigating through complex situations. I appreciate you from the bottom of my heart as to how you reply to my texts and emails (even on Friday afternoons)! I am relentless in getting the best care to my patients and you help me! If i am missing someone, know that I appreciate you (there is an actual mention limit on Linked In)! Sierra Dyer, Emily Mounts, Rawan Isam Awwad, MS, CGC, Pamela Callum, Jennifer Eccles MS LCGC, Amy Jordan, Gina Londre, Meaghan Doyle, Dina Nusblat, Meghan Grow, MS, CGC, Zeljana Djukic, Agnes Machaj, Erica Pai, MS, CGC, CCGC, Helen Andrusik, SHANNON WIELOCH, Sydney Bunshaft, MS, LCGC, Hanna Schulte, Liya R., Divya Shah Baxi, Paulina Nassab, Alyssa Snider, Jordan Steele, Chris Kirby, Josh Sinclair, Jill Chisholm, Alie Corirossi, Erin A., Jordan McGuire, Lauren Bell Also to the thought leaders and scientists in our field who are pushing the boundaries of what is possible. Please keep the debates going. It moves the whole field forward. Svetlana Rechitsky, Cengiz Cinnioglu, Manuel Viotti, Chaim Jalas, Antonio Capalbo, Nathan Treff, PhD, HCLD, Amber Cooper MD, MSCI, FACOG, Nabil Arrach, Ph.D, MBA, Santiago Munne, Mandy Katz-Jaffe, Noor Siddiqui, Jeremy Grushcow.

Watch this uplifting video featuring a remarkable woman’s inspiring journey as she and her family navigate a genetic cause of blindness, leading to retinitis pigmentosa, while exploring the best options for their future. At Genome Ally, we're dedicated to improving the lives of families and children. It's incredibly rewarding to support parents who are committed to ensuring the best outcomes for their children. Together, we’re making a lasting impact. Foundation Fighting Blindness, Discovery Eye Foundation, National Federation of the Blind #Genomics #Family #FamilyFirst #geneticblindness #retinitispigemntisa

🖥 💽 💾 🧬✨Practical knowledge is like essential software that must be downloaded and updated in the next generation. For me, there is no greater joy than sharing my expertise with the next generation of genetic specialists! Last week, it was incredibly rewarding to give a medical genetics grand rounds lecture to genetic counseling students and genetics residents at my alma mater, Wayne State University School of Medicine Department of genetics. Having my mentors, Dr. Gerald Feldman and Dr. David Stockton, who taught me the basics of genetics, there to complete the circle made it even more special. Grateful for the opportunity! #Genetics #Education #Mentorship #WayneStateUniversity #MedicalGenetics #GeneticCounseling #FutureLeaders #GenomeAlly