DNA Today: A Genetics Podcast Kira Dineen

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 signifi

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 info@DNAtoday.com. 

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 info@DNAtoday.com.

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 info@DNAtoday.com. 

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

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 info@DNAtoday.com.