DNA Today: A Genetics Podcast

We explore the genetic counseling board exam, its development, delivery, and resources available to test takers by the American Board of Genetic Counseling (ABGC) directly! There is so much to cover so this is a DOUBLE EPISODE of DNA Today. 
 
Joining us in this episode is ABGC’s current President, Angela Trepanier, and the Executive Director, Heather Rich. They provide an insider look at the exam and discuss the process of exam development, addressing issues, and adapting the exam to be more inclusive and equitable. The conversation covers various aspects of the genetic counseling board exam, including the content, passing point determination, exam administration, and recent changes. It also delves into the cost of the exam, financial assistance, and the impact on genetic counselors. The two ABGC speakers provide insights and transparency to ease anxiety for test takers and offer valuable information for program directors and supervisors.
 
Takeaways
Insight into the development and delivery of the genetic counseling board exam.
Understanding the multi-pronged process of exam development and the involvement of diverse experts.
Adaptation of the exam to address biases and promote inclusivity and equity.
The importance of transparency and communication in addressing exam issues and implementing changes. The passing point for the genetic counseling board exam is determined through a rigorous process involving a passing point committee and psychometricians.
The cost of the exam is attributed to various factors, including test vendor collaboration, committee meetings, and innovation costs.
Financial assistance and reduced exam fees aim to increase equity and access for individuals taking the exam, with a focus on supporting those facing financial hardship.
The exam administration process has evolved to provide immediate scoring and diagnostic score reports, enhancing the candidate experience.
Insights from the conversation provide valuable information for test takers, program directors, and supervisors, offering transparency and easing anxiety around the exam process.
 
The National Society of Genetic Counselors' (NSGC) Professional Status Survey (PSS) of 2024 reported that 25% of respondents (full time genetic counselors) had their board exam fees covered by their employer. Nineteen percent had their employer cover their board exam review course. 
 
Most genetic counselors who sat for exams in 2023 did not receive compensation from their
employer upon board certification (83%). Thirteen percent of genetic counselors received a
raise in salary upon board certification in 2023.
 
Want to learn more about boards? We have a couple other episodes to listen to, some of which we mentioned in the interview. 
 
#126 Adam Buchanan on ABGC Boards Exam - Answering listener submitted questions about the board exam is Adam Buchanan, who was the ABGC president at the time. #138 Genetic Counseling Boards Advice - In this episode our host Kira Dineen (who practices in prenatal) is joined by a cancer and a pediatric genetic counselor for insight from the three major specialties to provide insight 
 
#235 Genetic Counseling History: ABGC Formation - Seasoned genetic counselors Ann Walker and Ed Kloza reminisce and share about the formation of the American Board of Genetic Counseling (ABGC). 
 
During the episode we also mentioned some other resources….
 
GC Genius Flashcards - 150 Flashcards: Top 100 Conditions to Know + Expansion Pack (150 conditions)
 
ABGC Official Content Outline 
 
ABGC Frequently Asked Questions (FAQs)
 
ABGC Practice Exam
 
ABGC Certified Genetic Counselor (CGC®) Candidate Guide
 
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 295 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 [email protected].

In this episode we explore the emerging field of newborn screening for cancer predisposition with Dr. Lisa Diller from Dana-Farber/Boston Children’s.
What’s special about this podcast episode? Two Sarah Lawrence Genetic Counseling students took over! Great job to Jessica Fernandes and Yalda Safaei on this interview.
Dr. Lisa Diller is the Vice Chair of the Department of Pediatric Oncology and the Director of the Perini Family Survivors Center and the David B. Perini Jr. Quality of Life Clinic at the Dana-Farber Cancer Institute. Additionally, she is a co-director of the Pediatric Cancer Genetic Risk Program at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center. Dr. Diller's research focuses on the late effects of treatment for childhood cancer and genetic cancer predisposition syndromes in childhood.
 
Newborn screening (NBS) is a vital public health service that detects genetic, metabolic, and congenital disorders early, allowing for timely intervention and better health outcomes. While traditional screening focuses on metabolic and genetic disorders, screening for cancer predisposition is still in its early stages, with ongoing research and pilot programs evaluating its feasibility and benefits. NBS is currently done using a biochemical blood test, but Dr. Diller explains the advantages of using a gene-first approach, which has been documented in a study published in the Journal of the American Medical Association which recruited roughly 30,000 Chinese newborns. The study’s findings state that using genetic testing as a first-tier approach improved detection capability as opposed to traditional methods (Chen et al. 2023).
 
Gene-first sequencing, also known as "phenotype-first" or "candidate-gene" sequencing, is an approach in genetic testing where specific genes that are suspected to be associated with a particular phenotype (observable traits or symptoms) are sequenced first. This method contrasts with more comprehensive sequencing techniques such as whole-exome sequencing (WES) or whole-genome sequencing (WGS), where all protein-coding regions or the entire genome, respectively, are sequenced.
 
Nevertheless, implementing widespread newborn screening for cancer predisposition faces several challenges. Technological limitations need addressing to ensure accurate and reliable results, healthcare infrastructure must adapt, and the costs associated with additional genetic tests and follow-up care can be high. Additionally, the psychological impact on families knowing their child has a predisposition to cancer and what it might mean for them must be considered. Ethical considerations are also crucial in this context. Informed consent, privacy, classification of variants, and the potential for discrimination based on genetic information are key concerns. Dr Diller highlights potential stigma that comes with the “label” of being positive and also how many conditions lack complete penetrance; meaning it is difficult to say when or even if these children will develop cancer. 
 
The importance of early detection is underscored by hereditary conditions like retinoblastoma and Li-Fraumeni syndrome (LFS). Retinoblastoma, a rare eye cancer, can be life-threatening if not detected early, but early screening and intervention can significantly improve outcomes. While screening for adult onset cancers like BRCA1/2 in newborns is not recommended, LFS is also associated with various childhood cancers, thus detecting such predispositions early allows for surveillance and preventive measures, potentially saving lives. Following a positive result, parents have the ability to make informed decisions for their children’s health management, whether that requires immediate intervention/therapies, or close monitoring.
 
Dr. Diller emphasizes the importance of the gene-first approach and its role in the trajectory of newborn screening. She highlights the potential of early detection and intervention to significantly reduce cancer morbidity and mortality, and she is encouraged by continued research and support for these promising initiatives. 
 
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 290 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 [email protected].

In this episode, we explore the rare genetic disorder Smith-Magenis Syndrome (SMS) with our guest, Scotti Taylor. Scotti shares her personal journey and insights about her oldest daughter, Drew, who was diagnosed with SMS. Join us as we learn about the challenges and triumphs faced by individuals with SMS and their families.
 
Scotti Taylor (she/her) is a fine artist based in Oceanside, California, and a mother to four teenagers and young adults. She divides her time between painting and advocacy work. Her art reflects her experiences as a trauma and substance abuse survivor, her roles as a wife and mother, and her responsibilities as a devoted caregiver to her adult daughter with disabilities. Taylor’s work also explores the challenges of navigating physical and social barriers in contemporary society, aiming to evoke empathy and compassion. Her primary artistic themes focus on raising awareness for perimenopausal women and illuminating the rare genetic disorder Smith-Magenis Syndrome, with which her oldest daughter was diagnosed at the age of 20.
 
Discussion Topics:
Introduction to Drew:
Scotti shares about her daughter Drew, her personality, and what brings her joy.
Understanding Smith-Magenis Syndrome (SMS):
Explanation of what SMS is and how it affects individuals.
Daily challenges faced by Drew and her family due to SMS.
Diagnostic Journey:
When Drew started showing symptoms and the beginning of their diagnostic odyssey.
Early involvement of healthcare providers in Drew’s diagnosis.
Physical Characteristics and Diagnosis:
Discussion on the subtle facial features of SMS and their presence in Drew.
The pivotal moment involving a fellow parent in a Special Needs Moms online group.
Scotti’s initial reaction to learning about SMS through online research.
Genetic Testing:
The process and challenges of getting genetic testing for Drew.
The insurance approval process for the genetic test.
Explanation of the inheritance patterns of SMS and if Scotti and Drew’s father were tested.
Symptoms and Precautions:
Managing decreased pain sensitivity and self-injurious behaviors in people with SMS.
Extra precautions parents and caregivers need to take to keep those with SMS safe.
Impact of sleep disturbances on Drew and the family.
Other hallmark features of SMS and their effects on Drew.
Family Dynamics:
Impact of raising a child with SMS on family dynamics and relationships with Drew’s siblings.
Awareness and Advocacy:
Importance of spreading awareness about Smith-Magenis Syndrome.
Scotti’s art and its role in her advocacy and personal coping.
Advice and Resources:
Advice for other parents or caregivers of individuals with SMS or similar conditions.
Valuable resources and support networks for families affected by SMS.
Closing Thoughts:
Scotti’s hopes for others to gain an understanding and appreciation of SMS through her experiences and advocacy.
Check out Scotti’s art here and her Instagram (@heyscottitaylor). Be sure to also check out PRISMS that Scotti recommends during the interview. 
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 290 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 [email protected]. 

The real power of gene editing is being able to choose exactly where to edit a genetic disorder, as easily as correcting a tiny typo in a text.
 
With its 25 years of expertise, Cellectis was the first company to translate gene editing tools into potentially life-saving therapies. They invented the allogeneic approach (which is the transfer of cells from one individual to another). Cellectis’ technology, TALEN®, can make very precise edits, with limited to no off-target effects and we are learning more about it in this episode.
 
To do so, we are joined by Dr. Julien Valton, Vice President Gene Therapy at Cellectis.
 
On This Episode We Discuss:
Overview of Cellectis:
Celebrating 25 years of innovation in gene editing.
Overview of Cellectis’ journey and contributions to the field.
Understanding TALEN Technology:
Explanation of what TALEN stands for and how it works.
Comparison of TALEN with other gene editing technologies like CRISPR.
Advantages and disadvantages of using TALEN over CRISPR.
TALEN's intellectual property status and whether other companies are working on this technology.
Chimeric Antigen Receptor (CAR) T-cells:
Introduction to CAR T-cells and their role in gene editing with TALEN technology.
Recent Research and Innovations:
Discussion on the new paper co-authored by Dr. Valton on using TALEN technology to edit hematopoietic stem and progenitor cells.
Explanation of the “promoterless intronic gene editing approach” and how it differs from usual methods.
Reasons for choosing Mucopolysaccharidosis MPS type I for the study.
Insights into the decision to trigger gene expression only after cells have turned into the myeloid lineage.
Remarkable findings of “corrected cells” in the brains of mice and the implications for treating metabolic and neurological disorders.
Implications and Future Directions:
Potential therapeutic applications in the treatment of metabolic and neurological diseases.
Discussion on the recent partnership agreement with AstraZeneca.
Specific diseases targeted with TALEN in the near future and the goals of the collaboration with AstraZeneca.
Conclusion:
Final thoughts from Dr. Valton on the future of gene editing and Cellectis’ role in advancing this field.
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 290 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 [email protected].

In this episode, we are joined by Dan Dry Dock Shockley, a retired Navy veteran and advocate living with a hereditary colon cancer syndrome. Dan’s journey from military service to becoming a passionate advocate for hereditary cancer awareness is both inspiring and educational. Tune in as we delve into his personal experiences, the importance of early detection, and his ongoing mission to educate others.
 
Discussion Topics
 
Dan's Diagnosis and Perspective: Diagnosed at age 51 with no symptoms and no family history of colon cancer. He shares how this diagnosis shaped his perspective on health and life.
Genetic Testing Journey: Details about who ordered Dan's genetic testing and the education and counseling he received and the information about his specific genetic variant.
Understanding Attenuated FAP: Explanation of attenuated familial adenomatous polyposis (AFAP) and its impact on Dan’s life.
Advocacy and Inspiration:What inspired Dan to become an advocate for hereditary colon cancer syndrome and pancreatic cancer awareness.
Importance of Early Detection: The crucial role of colonoscopies in early cancer detection and treatment, especially in the context of hereditary cancer syndromes like AFAP.
Meeting Dr. Henry Lynch: Dan’s experience meeting Dr. Henry Lynch, a pioneer in cancer genetics and the significance of Dr. Lynch's groundbreaking work.
Continuing Dr. Lynch's Legacy: Dan's motivation to continue Dr. Henry T. Lynch's legacy of educating medical students and professionals about AFAP. 
Navigating with a Positive Attitude: How Dan’s mantra, "Always Forge Ahead with a Purpose," and its significance in guiding him.
Myth-busting Hereditary Cancer Syndromes: Common misconceptions about hereditary cancer syndromes and how Dan addresses them.
Advice for Others: Dan’s advice for individuals diagnosed with hereditary cancer syndromes or undergoing cancer treatment.
 
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 290 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 [email protected]. 

To discuss ethics in genetics, we are honored to host Dr. Arthur Caplan (he/him), a renowned bioethicist and a pivotal figure in the field of medical ethics. He is currently the Drs. William F and Virginia Connolly Mitty Professor and founding head of the Division of Medical Ethics at NYU School of Medicine in New York City.
Topics Covered:
Evolution of Bioethics in Genetics:
Insights into how the landscape of bioethics within genetics has evolved over the years.
CRISPR Technology:
Ethical concerns surrounding the use of CRISPR technology for editing the human germ line.
Discussion of Dr. Caplan's influential 2015 paper on CRISPR, cited over 200 times.
Examination of international treaties and policies governing CRISPR use, and their effectiveness, especially in the context of the controversial case of the Chinese scientist who edited embryos.
Ethical Concerns with CRISPR:
Issues of accessibility, cost, and informed consent for CRISPR-based therapies.
Risks associated with the misuse of CRISPR for bioterrorism or biowarfare, and mitigation strategies through regulation and oversight.
AI in Genetics:
Potential impact of rapidly advancing AI technology in genetics.
Concerns about privacy and confidentiality related to AI applications in genetic data.
IVF and Legal Rulings:
Discussion of the February 2024 Alabama Supreme Court ruling that embryos created through IVF should be considered children.
Implications for IVF clinics in Alabama and potential repercussions if other states follow suit.
Impact on individuals using IVF with preimplantation genetic screening (PGS) to prevent genetic conditions.
 
Dr. Caplan was the Sidney D. Caplan Professor of Bioethics at the University of Pennsylvania Perelman School of Medicine in Philadelphia, where he created the Center for Bioethics and the Department of Medical Ethics. Caplan has also taught at the University of Minnesota, where he founded the Center for Biomedical Ethics, the University of Pittsburgh, and Columbia University. He received his PhD from Columbia University.
 
Dr. Caplan is the author or editor of thirty-five books and over 860 papers in peer reviewed journals. His most recent books are Vaccination Ethics and Policy, with Jason Schwartz and, Getting to Good: Research Integrity in Biomedicine with Barbara Redman.
He has served on a number of national and international committees including as the chair of the National Cancer Institute Biobanking Ethics Working Group, chair of the Advisory Committee to the United Nations on Human Cloning; chair of the Advisory Committee to the Department of Health and Human Services on Blood Safety and Availability. He has also served on the Presidential Advisory Committee on Gulf War Illnesses, the special advisory committee to the International Olympic Committee on genetics and gene therapy, the Special Advisory Panel to the National Institutes of Mental Health on Human Experimentation on Vulnerable Subjects, the Wellcome Trust Advisory Panel on Research in Humanitarian Crises, and the co-director of the Joint Council of Europe/United Nations Study on Trafficking in Organs and Body Parts.
Caplan has served since 2015 as the chairperson of the Compassionate Use Advisory Committee (CompAC), an independent group of internationally recognized medical experts, bioethicists and patient representatives which advises Johnson & Johnson’s Janssen Pharmaceuticals about requests for compassionate use of some of its investigational medicines.
Dr. Caplan is a regular commentator on bioethics and health care issues for WebMD/Medscape, WGBH radio in Boston, WOR radio in New York City and KNX-CBS radio, Los Angeles. He appears frequently as a guest and commentator on various other national and international media outlets.
 
Dr. Caplan is the recipient of many awards and honors including the McGovern Medal of the American Medical Writers Association and the Franklin Award from the City of Philadelphia. He was a USA Today 2001 “Person of the Year and was described as one of the ten most influential people in science by Discover magazine in 2008.
 
He has also been honored as one of the fifty most influential people in American health care by Modern Health Care magazine, one of the ten most influential people in America in biotechnology by the National Journal, one of the ten most influential people in the ethics of biotechnology by the editors of Nature Biotechnology, and, one of the 100 most influential people in biotechnology by Scientific American magazine.
 
During the Covid-19 pandemic, he co-directed an advisory group on sports and recreation for the US Conference of Mayors, created a national working group on coronavirus vaccine challenge studies, developed an ethical framework for distributing drugs and vaccines for J&J, helped develop rationing policies for NYU LMC and many other health systems, was a member of the WHO advisory committee on Covid, ethics and experimental drugs/vaccines, and helped set policy for WIRB/WCG for research studies He was an advisor to Moderna and Accenture. And he continues to serve on the NCAA Sports and Covid committee.
 
He received the Patricia Price Browne Prize in Biomedical Ethics for 2011. In 2014 he was selected to receive the Public Service Award from the National Science Foundation/National Science Board, which honors individuals and groups that have made substantial contributions to increasing public understanding of science and engineering in the United States. In 2016 the National Organization for Rare Disorders (NORD) honored him with their Rare Impact Award and hFood and Drug Law Institute’s Distinguished Service Leadership Award. In 2019 he was honored by the Food and Drug Administration’s, Reagan/Udall Foundation with its Innovation Award.NYU Rory Meyers College of Nursing Humanitarian Award.He holds seven honorary degrees from colleges and medical schools.
Check out these articles related (or mentioned) during the episode. 
 
DNA Today Episode #284 IVF Implications of Alabama's Frozen Embryo Ruling with Laura Hercher
 
DNA Today Episodes #288 and #289 CRISPR Cured Victoria Gray’s Sickle Cell
No time to waste—the ethical challenges created by CRISPR 
 
Standing on the Shoulders of Giant Artificial Intelligence Bots: Artificial Intelligence Can and Therefore Must Now Elevate Equity in Health Professional Education 
 
Dr. Athur Caplan's Faculty Listing at NYU 
 
Genetic Counseling Ethical Challenges and Consequences Book Co-Authored by Dr. Caplin 
 
Hospital At Center of Alabama Embryo Ruling Is Ending IVF Services (NY Times Article) 
Dr. Caplan was also generous enough to provide his email address ([email protected]) so you can reach out to him directly for any questions or comments.  
 
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 290 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 [email protected]. 

Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, Good Morning America, New York Times, and more. 
 
In the first part of our conversation she shared about her experiences prior to being cured including her sickle cell pain crisis and the medical racism she faced. If you haven’t heard this episode yet, we very much encourage you to go back to Episode #288 and listen, this is one of the most raw interviews we have had on the show over the last decade. 
 
In the second part of our interview in this episode, Victoria talks about inspiring others to pursue the CRISPR treatment and dives into her own CRISPR experience including the decision making process to go for it, the treatment regime itself, and her quality of life today after being cured. 
 
Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, New York Times, and more. 
 
Victoria Gray, the first person in the world to be cured of a genetic condition using CRISPR, shares her experience with sickle cell disease and the challenges she faced in receiving proper care. She describes the frequent pain crises she experienced, the lack of understanding and empathy from healthcare providers, and the stigma associated with sickle cell patients. Victoria highlights the disparities in research funding and support for sickle cell compared to other genetic conditions. She also discusses the importance of mental health care and the need for better education and communication from healthcare providers. Victoria Gray shares her experience as the first person to be treated with CRISPR for sickle cell disease. She discusses the mistreatment and lack of options she faced as a patient, highlighting the ongoing issue of healthcare disparities. Victoria also talks about the impact of her story on others, including a fan who was inspired to pursue CRISPR treatment. She emphasizes the importance of mental health and the role of faith in her journey. The conversation explores the CRISPR procedure, the timeline of the treatment, and the transformation it has brought to Victoria's life.
 
During the interview we mentioned a couple other episodes of DNA Today that also explore sickle cell disease. 
 
#197 CRISPR Quality Control with Kiana Aran
#201 Sickle Cell Disease with Lifting the Veil
#214 2022 Genetics Wrapped with Eric Green
#251 Diversifying Genetic Research with 23andMe
#266 Genetics Wrapped 2023
 
You can also 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 [email protected].

It has happened. CRISPR has been successfully used to treat sickle cell, we’d even venture to use the term cure. And today we are talking with the first person in the world who was cured from a genetic condition using CRISPR, Victoria Gray! 
 
Victoria is a patient advocate and international speaker from Mississippi. She is also a wife and mother of four children. Since being treated with CRISPR she has been featured in nearly every major publication including PBS, NPR, Forbes, New York Times, and more. 
 
Victoria Gray, the first person in the world to be cured of a genetic condition using CRISPR, shares her experience with sickle cell disease and the challenges she faced in receiving proper care. She describes the frequent pain crises she experienced, the lack of understanding and empathy from healthcare providers, and the stigma associated with sickle cell patients. Victoria highlights the disparities in research funding and support for sickle cell compared to other genetic conditions. She also discusses the importance of mental health care and the need for better education and communication from healthcare providers. Victoria Gray shares her experience as the first person to be treated with CRISPR for sickle cell disease. She discusses the mistreatment and lack of options she faced as a patient, highlighting the ongoing issue of healthcare disparities. Victoria also talks about the impact of her story on others, including a fan who was inspired to pursue CRISPR treatment. She emphasizes the importance of mental health and the role of faith in her journey. The conversation explores the CRISPR procedure, the timeline of the treatment, and the transformation it has brought to Victoria's life.
 
Key Takeaways
Sickle cell disease causes frequent and severe pain crises, which can be debilitating and unpredictable.
Healthcare providers often lack understanding and empathy towards sickle cell patients, leading to mistreatment and stigma.
There is a significant disparity in research funding and support for sickle cell compared to other genetic conditions.
Mental health care is crucial for individuals with sickle cell disease, but it is often overlooked.
Better education and communication from healthcare providers are needed to improve the care and support for sickle cell patients. Healthcare disparities and mistreatment of patients with genetic conditions are ongoing issues that need to be addressed.
The impact of Victoria Gray's story extends beyond her own experience and has inspired others to pursue CRISPR treatment.
Mental health and faith played a significant role in Victoria's journey.
The CRISPR procedure involved bone marrow collection, editing the cells with CRISPR, and reintroducing them into Victoria's body.
The treatment has transformed Victoria's life, allowing her to regain independence and participate in activities she couldn't before.
 
During the interview we mentioned a couple other episodes of DNA Today that also explore sickle cell disease. 
 
#197 CRISPR Quality Control with Kiana Aran
#201 Sickle Cell Disease with Lifting the Veil
#214 2022 Genetics Wrapped with Eric Green
#251 Diversifying Genetic Research with 23andMe
#266 Genetics Wrapped 2023
 
Hear the second half of Victoria’s interview on the next episode (Episode #289) of DNA Today releasing on Friday May 17th. But you don’t have to wait, you can stream the entire conversation (part 1 and 2) in this YouTube video. 
 
You can also 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 [email protected]. 

We dive into the journey of a family who unexpectedly discovered a genetic condition and the pivotal role that research at the National Institutes of Health (NIH) played in their understanding and treatment. Joining us are Jess, a patient with a secondary genetic finding, and her genetic counselor, Julie Sapp, from the National Human Genome Research Institute.
 
Secondary genetic findings, often termed as incidental or unexpected results, can have profound implications for individuals and their families. Today, we explore Jess's experience with receiving such a result and the collaborative efforts between patients, genetic counselors, and researchers in navigating this journey.
 
Meet Our Guests:
Jess: A patient who received a secondary genetic finding and embarked on a journey of understanding and treatment.
Julie Sapp: A genetic counselor at the National Human Genome Research Institute, leading research efforts in the Genomic Services Research Program (GSRP), focusing on individuals with secondary findings.
 
Julie Chevalier Sapp, PhD, ScM, CGC is a genetic counselor at the Center for Precision Health Research at the National Human Genome Research Institute where she studies social and behavioral questions related to the practice of clinical genomics and genetic counseling.  Her research interests include how people and systems make use of genomic data, the implementation of genomic screening, and the clinical utility of genomic techniques. Julie received her genetic counseling degree from the Johns Hopkins/NHGRI genetic counseling training program in 2005 and her PhD in Translational Health Science from the George Washington University in 2024.
 
Interview Highlights:
 
Understanding Secondary Findings:
Julie provides insights into what constitutes a secondary finding in genetic testing and the importance of comprehending associated health risks and outcomes.
 
Patient Perspective:
Jess shares her personal experience of receiving a secondary finding and discusses her journey to the Genomic Service Research Program (GSRP) at the NIH.
 
Role of Genomic Testing in Diagnosis:
Julie elaborates on how molecular diagnosis obtained through genomic testing contributed to Jess's clinical diagnosis and subsequent healthcare management.
 
Importance of Interventions:
Julie emphasizes the significance of interventions and preventive measures in managing genetic conditions like Familial Hypercholesterolemia (FH).
 
Challenges and Barriers:
Both Jess and Julie shed light on the challenges patients face in accessing appropriate care and how genetic counselors can support them in navigating these barriers.
 
Research Insights and Future Directions:
Julie discusses the insights gained from Jess's case and the broader implications for research and clinical practice in the realm of genomic medicine.
 
Jess's journey exemplifies the transformative potential of collaborative research efforts in elucidating the complexities of genetic conditions and guiding personalized healthcare interventions. As we continue to advance in genomic research and testing, the experiences shared in this episode underscore the importance of patient-centered care and the invaluable contributions of genetic counselors and researchers alike.
 
Be sure to check out the National Human Genome Research Institute including their Genomic Services Research Program (GSRP). 
 
Stay tuned for the next new episode of DNA Today next Friday since new episodes are released every Friday! In the meantime, you can binge over 285 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. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian.
 
See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. 

We have an international perspective in this episode who is a leader in genetics in Qatar. We previously talked to the first certified genetic counselor in Qatar, Shenela Lakhani, in Episode #109. If you haven’t yet we encourage you to check that interview out.
 
In this episode, We learn about the Qatar Genome Program (QGP), which is part of the Qatar Foundation, from the Director himself, Dr. Said Ismail. Dr. Ismail was pivotal to the establishment of the Qatar Genome Program -- a groundbreaking genome sequencing initiative that started in 2015 and is the largest project of its kind in the Middle East. QGP was the first whole-genome sequencing operation in the region to study Qatari and Arab genomes.
 
Dr. Said Ismail expertise and research lie in the fields of molecular biology and genetics, with a focus on cancer genetics, precision medicine, and the screening and characterization of disease-related mutations in the Arab population. Dr. Ismail has work experience across various fields, including research, education, and consultancy. He served as a consultant to several regional and international pharma and biotech companies. He headed the Jordan University Hospital molecular diagnostics reference laboratory, and was a board member of the local advisory board of the International Consortium for the American Society for Clinical Pathology International (ASCPI). He is the first president and co-founder of the International Society on Aptamers and is also an editorial board member of multiple international journals.
 
Dr. Ismail has a special interest in promoting research among young students. He launched one of the largest efforts to enhance the Arabic medical content on the internet, The “Bel-Arabi” or “In-Arabic” initiative: "بالعربي". He is also a board member of the Phi Science Institute aiming to encourage young students to pursue careers in research.
 
Dr. Ismail won the Said Foundation prize for young Arab researchers in the UK, and the Shoman award for Arab researchers in biomedical sciences in 2013. Dr Ismail holds a Ph.D. from the University of Oxford.
 
Key Insights from the Interview:
 
Inspiration behind QGP: Dr. Ismail shares his motivations for spearheading such a groundbreaking initiative, emphasizing the importance of advancing genomic research to enhance healthcare outcomes and address the unique genetic characteristics of the Arab population.
Significance of Diversity: We explore the importance of accessing diverse genomic information, particularly concerning the Arab population, in advancing precision medicine. Dr. Ismail highlights the role of QGP in uncovering genetic variations specific to the Qatari population and their implications for disease susceptibility and treatment outcomes.
Collaborative Efforts: Dr. Ismail discusses QGP's collaborations with other institutions and researchers to advance genomic research globally. Through partnerships and knowledge exchange, QGP aims to contribute to the broader understanding of genomics and precision medicine.
Challenges and Future Prospects: We delve into the challenges encountered in implementing precision medicine approaches and the future prospects of genomic research in Qatar and the wider region. Dr. Ismail provides insights into the evolving landscape of precision healthcare and the potential challenges that lie ahead.
 
Relevant Links:
 
Qatar Genome Program: https://www.qatargenome.org.qa/ 
 
News Story on QGP: https://www.eurekalert.org/news-releases/907772
 
Perception of consanguineous marriage among the qatari population: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436573/ 
Qatar completes genome sequencing of 30,000 citizens: https://www.gulf-times.com/article/668469/qatar/qatar-completes-genome-sequencing-of-30000-citizens 
Mappin The Arab Genome: https://www.nature.com/articles/s41588-022-01239-0
 
GWAS paper: https://www.nature.com/articles/s41467-021-21381-3
 
PGx paper: https://www.nature.com/articles/s41525-022-00281-5
 
Familial Cancer paper: https://www.thelancet.com/journals/lanonc/article/PIIS1470-2045(21)00752-X/abstract
 
ACMG paper: https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24278
 
Population Structure paper: https://www.nature.com/articles/s41467-021-25287-y
 
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 [email protected].