Cytogenetics is the field genetics at a cellular level, which means looking at chromosomes (bundles of DNA). Clinical Cytogeneticist, Charlotte Keith, discusses the areas of testing; acquired and constitutional, which is broken down into prenatal and postnatal.  She explains how balanced and unbalanced rearrangements work and talks about a case that explains the concept.
Charlotte gives us an UK view of how genetic counseling is incorporated into their genetic testing process and just how complex “informed consent” is when it comes to genetic testing as  incidental findings do happen. Direct-to-consumer testing becoming more popular and Charlotte adds in her opinion on these companies and the science behind them.
Check out the website Charlotte recommends for understanding chromosome disorders www.rarechromo.org, it has resources for countless syndromes with downloadable pdfs outlining information in laymen’s terms. She also mentions the Deciphering Developmental Disorders (DDD) project and the 100,000 Genomes Project.Charlotte is a Clinical Cytogeneticist from Scotland, providing diagnostic and prognostic genetic testing for NHS (National Health Service) patients.

#62 Cytogenetics Basics

Discover New Advances in the world of genetics, from technology like CRISPR to rare diseases to new research. For over a decade, multi-award winning podcast ”DNA Today” has brought you the voices of leaders in genetics. Host Kira Dineen brings her genetics expertise to interview geneticists, genetic counselors, patient advocates, biotech leaders, researchers, and more.

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In our most streamed episode of 2023, we delved into the fascinating world of Artificial Intelligence (AI) and its impact on genetics with Daniel Uribe, the founder and CEO of GenoBank.io. Now, Daniel returns to the show to provide us with insights into the latest advancements in AI technology and its applications in genetics.
 
In Episode #231, Daniel Uribe and our host Kira Dineen discussed the transformative potential of AI in genetics, focusing on its role in variant curation and diagnostic processes. Since then, AI has continued to evolve rapidly, revolutionizing the field of genetics and offering new possibilities for understanding health and DNA.
 
Danie Uribe, MBA, founder and CEO of GenoBank.io, is at the forefront of integrating AI with genomics to empower individuals and families in understanding their health and DNA. With a deep background in data science, artificial intelligence, and bioinformatics, Danie’s leadership has steered GenoBank.io to develop groundbreaking protocols that utilize BioNFTs for secure genomic data governance. His work champions the cause of data privacy and sovereignty in personal genomics, leveraging AI to demystify complex genetic information for personal health empowerment. An alumnus of IPADE Business School, Danie holds additional certifications in Ethereum Solidity Dapp, eQTL Functional Genetics, and RNA-seq Workshop. A pioneer in the DeSci movement, he is dedicated to making GenoBank.io a beacon for individuals seeking to navigate their health journey with confidence, supported by accessible and secure genomic insights.
 
Interview Highlights:
 
 Advancements in AI Technology:
Daniel provides an overview of the remarkable progress AI has made since our last conversation on Episode #231 in early 2023, highlighting its growing influence and expanding applications in genetics. From variant curation to diagnostic workflows, AI is transforming the way we understand and interpret genomic data.
 
 Current Uses of AI in Genetics:
Daniel explores the diverse ways in which AI is already being utilized in genetics, from prioritizing workflow for variant curation to filtering through large volumes of genomic data. He shares real-world examples of AI-driven solutions that have enhanced efficiency and accuracy in genomic analysis.
 
 Impact on Genetic Jobs:We discuss the potential implications of AI on genetic jobs and whether AI will replace certain roles in the field. Daniel offers insights into how AI can augment the capabilities of genetic counselors and other experts, emphasizing the importance of embracing AI as a valuable tool rather than a replacement.
 
 Enhancing Variant Curation with AI:
Daniel explains the role of AI in prioritizing variants for further investigation in the curation workflow and how it accelerates the diagnostic odyssey, particularly for individuals with rare diseases. He addresses concerns about costs and disparities in variant curation and discusses the potential of AI to close these gaps.
 
 Addressing Challenges and Security Concerns:
We delve into the challenges genetic counselors face in adopting AI tools and discuss strategies for overcoming these obstacles. Daniel also highlights the importance of data security and the need for robust measures to protect individuals' data while utilizing AI tools in genetic analysis.
 
 Regulatory Landscape and Future Outlook:
Daniel provides updates on regulations and policies affecting the use of AI in genetics, particularly in the US. He shares insights into the integration of AI as a co-pilot in the profession of genetic counseling and discusses the future trajectory of AI-driven advancements in genetics.
 
As we navigate the dynamic landscape of AI and genetics, Daniel's expertise offers invaluable insights into the transformative potential of this technology. From improving diagnostic accuracy to addressing disparities in variant curation, AI holds immense promise for revolutionizing the field of genetics and

#285 AI To Enhance Variant Curation with Daniel Uribe

Trigger warning: In this episode sensitive topics are discussed including, but not limited to, miscarriage, sexual abuse, manslaughter, and child abuse. 
 
On February 16th, 2024 the Alabama Supreme Court brought fertility care in that state to a screeching halt—and started a national conversation—by declaring that frozen embryos were people in the eyes of the law.
 
This is the first line of Laura Hercher’s Scientific American article, “How Arguments that Embryos Are People Pose a Threat to IVF''.
 
And we are lucky enough to have Laura joining us to discuss this!
 
For those that somehow don’t know Laura Hercher, you haven’t listened to enough episodes of DNA Today she has become our correspondent when major legislation happens that affects reproductive medicine, check those episodes out below. 
 
#157 NSGC 2021 Recap (Texas Abortion Ban)
#191 Overturning Roe v. Wade with Laura Hercher
 
Laura Hercher (she/her) is a genetic counselor and the Director of Student Research at Sarah Lawrence College’s Joan H. Marks Graduate Program in Human Genetics, where her research focuses on ethical, legal and social issues in genomic medicine. Her work as a commentator and journalist has been published in a wide variety of media outlets, including Scientific American, the MIT Technology Review, the Nation Magazine and the New York Times. At present, she is working on a book examining the societal implications of reproductive genomic medicine in the United States, tentatively entitled “The Ghettoization of Genetic Disease.”
 
On This Episode We Discuss: 
Overview of the Alabama Supreme Court case and its ruling on the legal status of frozen embryos
Definition of personhood and its implications for IVF and Republican politicians
Implications of the ruling for couples seeking fertility treatment involving frozen embryos
Impact of the ruling on the use of IVF for preventing hereditary conditions
Considerations regarding legal liabilities and responsibilities for abandoned embryos
Historical exemptions of IVF from abortion restrictions and its future under personhood laws
Tensions between embryo recognition as individuals and practical IVF procedures
Potential changes in availability and affordability of IVF due to legal implications
Precedents from other countries and legal systems regarding IVF and embryo personhood 
Role of the U.S. Supreme Court in adjudicating similar reproductive rights cases
Teaser for Laura Hercher’s upcoming book on the societal implications of reproductive genomic medicine
 
If you listened until the end of the episode, you heard Laura Hercher’s breaking news. No spoilers, but now you have to listen to our episode about how accurate the genetics in the 1997 movie Gattaca is today, that’s Episode #110. 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher

We delve into the intricate intersection of genetics and cardiac health, exploring the profound impact of genetic insights on patient care and treatment decisions. Joining us are two distinguished guests from Blueprint Genetics, Julie Hathaway and Susan Christian, both seasoned genetic counselors specializing in cardiovascular health. Their expertise promises to illuminate the complexities of genetic testing in cardiac conditions, offering valuable insights into familial risk assessment, intervention strategies, and emerging trends in personalized medicine.
 
Susan Christian is a certified genetic counsellor with Genetics & Genomics with Alberta Precision Labs and is cross appointed to the Medical Genetics Clinics with Alberta Health Services.  She completed a MSc in Genetic Counselling from the University of British Columbia in 1999 and a PhD in Medical Genetics from the University of Alberta in 2019.  Her research focus is on genetic counselling and inherited heart disease.
 
Julie Hathaway is an American and Canadian Board certified genetic counselor. She was introduced to cardiac genetics early on in her career and this remains her main area of interest in the field. As a Clinical Liaison at Blueprint Genetics, Julie provides both internal and external clinical support and education. In addition, she contributes to research and creating scientific content.
 
Exploring Genetic Cardiac Conditions:
- Deciphering the two main types of cardiac conditions: structural differences and rhythm abnormalities, providing clarity on their distinctions and clinical implications.
 
Identifying Familial Risk:
- Key clues in family histories that may indicate inherited cardiac conditions, emphasizing the importance of early detection and intervention.
 
Challenges in Testing Deceased Patients:
- The challenges laboratories face in testing deceased patients, highlighting the complexities of obtaining samples and interpreting limited phenotypic data.
 
Family Testing and Intervention:
- The significance of testing family members after identifying a familial variant, discussing intervention strategies and clinical trial eligibility.
 
Patient Impact of Genetic Test Results:
- How genetic test results impact patient management, including decisions regarding clinical trial eligibility and implantable cardioverter-defibrillator (ICD) implantation.
 
Genetic Testing Panels and Exome Sequencing:
- The selection of genetic testing panels, discussing the considerations for panel size and the circumstances warranting exome sequencing.
 
Addressing Emotional and Psychological Aspects:
- The vital role of genetic counselors in supporting patients and families through the emotional and psychological aspects of genetic testing for cardiac conditions.
 
Ethical Considerations and Future Trends:
- The ethical considerations of genetic testing in pediatric cases and explores the future of genetic testing and personalized medicine in cardiology.
 
Be sure to check out Blueprint Genetics’ cardiac genetic testing options including over 20 panels. 
 Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#283 Cardiogenetics with Blueprint Genetics

Ornithine transcarbamylase deficiency (OTC-D) is the most common urea cycle disorder (UCD) and is inherited in an X-linked manner. Females with OTC-D are affected to varying degrees. Some female patients will develop chronic and nonspecific symptoms, such as headaches, and all women with OTC-D are at risk of experiencing hyperammonemic crises. Additionally, recent studies suggest these women can experience neurocognitive changes even though they may appear to be “asymptomatic” or have mild symptoms. As our understanding of the disease has evolved, so too have the ways in which we refer to these women and approach their care.
 
In this episode, we’re delving into the evolution of caring for heterozygous females with OTC-D, including the unique challenges to diagnosis and management of these patients with variable and nonspecific symptoms.
 
Joining us are two esteemed guests well-versed in the unique needs of females with OTC-D.
 
Annette Feigenbaum, MBChB, FRCPC, DABMG (Rady Children’s Hospital and University of California San Diego), is a metabolic geneticist with over 30 years of experience in the field. She recently retired from her clinic role at Rady Children’s Hospital, where she served as an associate physician for the past 12 years. She and her team recently published a case report on the prenatal and postpartum management of a female with OTC-D. She has also published an overview of the challenges of managing female heterozygotes with OTC-D.
 
Joshua Baker, DO (Ann & Robert H. Lurie Children’s Hospital of Chicago), is a metabolic geneticist and the director of the Inborn Errors of Metabolism Program in the Division of Genetics, Genomics, and Metabolism. He and his team recently published a case report on a family with variable manifestations of OTC-D.
 
On This Episode, We Discuss:
How our understanding and approaches to managing heterozygous females with OTC-D have changed over time
Management challenges unique to females with OTC-D and best practices for encouraging continued engagement in their care
Opportunities to support the care of females with OTC-D
 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 270 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; this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach intern is Sanya Tinaikar. Our social media intern is Kajal Patel, and our logo graphic designer is Ashlyn Enokian.
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube, and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#282 The Evolution of Caring for Females With OTC Deficiency

A physician-scientist father shares his heartbreaking story of the death of his daughter who was diagnosed with Tay-Sachs disease and how it motivated him to become the CEO of JScreen to prevent this experience in other families. 
 
This episode was originally recorded for another podcast Kira Dineen produces, It Happened To Me, and which is hosted by Cathy Gildenhorn and Beth Glassman. 
 
Matt Goldstein is a physician-scientist and entrepreneur. He has founded companies, built R&D teams, and led strategy and execution of both pre-clinical research and clinical development. Prior to joining JScreen and Emory University, Matt was a Partner at Related Sciences, a venture creation firm. As an entrepreneur at Third Rock Ventures he spent a decade building and operating Third Rock portfolio companies. He was responsible for building and leading the Immunology program at Tango Therapeutics, the centerpiece of Tango’s strategic multi-billion dollar partnership with Gilead Sciences, Inc. He also served as the development head for Tango’s lead program which entered the clinic in 1H 2022. Matt was a co-founder of Neon Therapeutics leading Translational Medicine and Early Development through completion of their first clinical study and initial public offering. He is a graduate of Swarthmore College and the MD/PhD program at Stanford University, where he pioneered novel cancer immunotherapies in the lab of Ron Levy, MD. He completed his clinical training in Internal Medicine at Harvard Medical School, Brigham & Women’s Hospital. He lives in Boston with his wife, Myra, their second daughter Kaia and son Ezra. His oldest daughter Havi died on January 20th, 2021 of Tay-Sachs disease.
 
A quick update that during the episode Matthew mentioned there are 4,000 genetic counselors in the USA, this number has now surpassed 5,000.  
 
During the episode, Matthew recommends the book Bearing the Unbearable: Love, Loss, and the Heartbreaking Path of Grief by Dr. Joanne Cacciatore. 
 
Check out his wife, Myra Sack’s organization, Emotion, which is for grieving individuals to find community and cope with loss. In the next episode of It Happened To Me Myra Sack will come on the show to share about Emotion and her upcoming book, Fifty-Seven Fridays, which consists of memoirs from Matt and Myra, Havi’s diagnosis, and how they celebrated her life. 
 
Stay tuned for the next new episode of DNA Today next Friday! New episodes are released every Friday. In the meantime, you can binge over 280 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, this includes some episodes recorded at NBC Universal Stamford Studios. 
 
DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Instagram, X (Twitter), Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to info@DNAtoday.com.

#62 Cytogenetics Basics

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