DNA Today: A Genetics Podcast

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact.

In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation.

Joining us from Portugal is Dr. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use.

Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality.

In This Episode, We Discuss
Setting the Stage: IPATIMUP’s Role in Oncology

How IPATIMUP fits into Europe’s oncology landscape

Why a research-driven approach is central to its diagnostic mission

From Research to Routine Diagnostics

Translating research findings into clinical workflows

Balancing innovation with responsibility in patient-facing diagnostics

Choosing the Right Technology Partner

Why IPATIMUP selected MGI sequencing platforms

What differentiates MGI’s technology in oncology applications

The importance of flexibility across DNA and RNA testing

Why long-term technical collaboration matters beyond installation

Large Gene Panels in Clinical Practice

How Gene+ selected the 1,021 genes included in its oncology panel

Real-world experience using large DNA and RNA panels in routine diagnostics

Why the Gene+ panel pairs effectively with MGI’s sequencing platforms

What it takes to move from validation to clinical implementation

RNA Sequencing as a Diagnostic Advantage

How RNA sequencing complements DNA-based testing in oncology

When RNA sequencing provides the most clinical value

How RNA data can increase diagnostic confidence in complex cases

Automation, Scale, and Quality

Why automation is essential for high-throughput oncology labs

Reducing hands-on time and minimizing human error

Practical advice for labs looking to scale while maintaining consistency and quality

 

Relevant Resources: 

IPATIMUP

MGI Tech

MGI’s Sequencing Platforms 

Gene+

 

Relevant DNA Today Podcast Episode:
#355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech

#360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle”

#364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel

 

Connect With Us:

Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

January 30th, 2026 Update:

Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government.

The next step for the bill is to go back the U.S. House of Representatives for final passage.

Urge your representatives to pass this legislation, MDA made it easy to do so here. 

 

January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th. 

Urge your senators to pass this legislation, MDA made it easy to do so here. 

Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you! 

 

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What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment. 

 

We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University.

 

We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it. 

 

In This Episode, We Discuss
What’s Actually Happening With NIH Funding

Why the phrase “NIH cuts” understates the real-world impact on patients and families

What proposed reductions for Fiscal Year 2026 could mean for rare disease research

How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials

Why Rare Disease Research Is Especially at Risk

Why rare disease programs are more sensitive to funding instability than common conditions

The difference between slowed progress and permanent loss for progressive neuromuscular diseases

How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials

What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge

Neuromuscular Disease Research in 2026

Where neuromuscular research stands today and what breakthroughs are closest to patients

Which types of studies are most vulnerable to funding cuts

How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases

Policy Realities & Misconceptions

How to explain to policymakers that cutting research now increases long-term healthcare costs later

Common misconceptions about NIH funding and why rare disease research can’t simply “pause and restart”

Advocacy: What You Can Do Right Now

The most effective actions for advocates engaging Capitol Hill today

What makes a patient or family story resonate with lawmakers and staffers

How collective advocacy protects not just future discoveries, but lives happening right now

Relevant Resources: 
Click here to urge you senators to pass legislation this week to support the NIH (mda.org/supportNIH). The bill now moves to the Senate for consideration the week of January 26th, 2026.  

MDA Advocacy Landing Page

MDA Advocacy Action Center

Donate to MDA

MDA's X Page

MDA's Instagram Page

Request MDA Services 

We Work For Health 

 

Relevant DNA Today Podcast Episode:

#306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19

#327 How Patient Advocacy is Changing Rare Disease Research

#356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (including NIH changes with former NHGRI Director Dr. Eric Green)

 

Connect With Us: 
Usually we release new episodes on Friday, but since this was so timely we released it as a bonus episode. You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC.

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help?

In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life.

Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next.

We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care.

On This Episode We Discuss:
Aging in Place & Memory Care

What families are most concerned about when trying to keep a loved one at home

How memory-related illnesses change caregiving compared to physical limitations alone

Common misconceptions about the progression of cognitive decline

What “successful aging in place” realistically looks like

Medication Challenges in Older Adults

Why polypharmacy is so common—and so risky—in later life

How medications that once worked well can become problematic over time

Real-world examples of unexpected medication reactions in individuals with memory changes

Why older adults are especially vulnerable to side effects, particularly with cognitive impairment

Pharmacogenomics, Explained for Caregivers

What pharmacogenomics (PGX) is and how to explain it to families in practical terms

Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated

How PGX may help prevent medication-related crises before they happen

PGX in Home-Based Memory Care

How pharmacogenomics could reshape medication decisions for dementia care

Medication categories that often raise red flags in older adults

How genetic insights may help protect individuals who can’t clearly report side effects

Advocacy, Access & System Gaps

Barriers families face when trying to access PGX-informed care

How caregivers can request medication reviews without feeling confrontational

Where healthcare systems often fall short of the realities families manage at home

Looking Ahead

What it would mean to routinely integrate pharmacogenomics into elder care

Michele’s key message for caregivers navigating medications, memory care, and aging in place

Our Guest: 
Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life.

Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true.

She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching.

Relevant Resources:
Need Health? 

UChicago News: Women are overmedicated because drug dosage trials are done on men, study finds
ClinPGx

Sequence2Script

The PREPARE Study

Table of Pharmacogenomic Biomarkers in Drug Labeling

The Clinical Pharmacogenetics Implementation Consortium (CPIC®)

Relevant Papers:

Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, Guardascione M, D'Andrea M, Favaretto A, Puglisi F, Swen JJ, Guchelaar HJ, Toffoli G, Cecchin E. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA Netw Open. 2024 Dec 2;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: 39641926; PMCID: PMC11624585.

 

van Marum RJ. Underrepresentation of the elderly in clinical trials, time for action. Br J Clin Pharmacol. 2020 Oct;86(10):2014-2016. doi: 10.1111/bcp.14539. Epub 2020 Sep 9. PMID: 32909294; PMCID: PMC7495271.

 

Zucker I, Prendergast BJ. Sex differences in pharmacokinetics predict adverse drug reactions in women. Biol Sex Differ. 2020 Jun 5;11(1):32. doi: 10.1186/s13293-020-00308-5. PMID: 32503637; PMCID: PMC7275616.

Relevant DNA Today Podcast Episode:

#108 Dr. Becky Winslow on Pharmacogenomics

#174 Pharmacogenomics with Fulgent Genetics

#229 Pharmacogenomics with Avni Santani

#324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) 

#354 How Pharmacogenomics is Revolutionizing Drug Prescriptions

#370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine (Talked about PGx with chemotherapy) 

Connect With Us:

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders.

Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families.

We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals. 

Topics Covered in This Episode

What Fabry disease is and how it affects the body.

The impact of Fabry’s X-linked inheritance on clinical presentation.

Why the term “just a carrier” is misleading for females or people with two X chromosomes.

Variability in disease expression among females and key clinical cases.

Classic vs. later-onset Fabry phenotypes and diagnostic challenges.

Common signs and symptoms that often go unrecognized.

Barriers leading to delayed diagnosis and under-recognition.

Benefits of early detection and cascade family screening.

Managing variants of uncertain significance (VUS) in the GLA gene.

Limits of genotype–phenotype correlations in Fabry disease.

Psychosocial challenges for families living with a Fabry diagnosis.

Advice for clinicians and genetic counselors evaluating potential Fabry patients.

Resources & Links

The brand new website, FindingFabry.com has additional information and resources. 

Amicus’ website here also has information about Fabry disease. 

Patients’ stories about living with Fabry disease. 

Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives?

In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine.

We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact:

Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics.

Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified.

Topics Covered In This Episode: 

The stories behind scientific breakthroughs and what fuels discovery

How collaboration across disciplines accelerates innovation

Translating genetic discoveries into real-world therapies

The role of publishing and open science in driving progress

How journals are adapting to promote transparency and reproducibility

Advice for early-career researchers balancing ambition with sustainability

The evolving landscape of global collaboration in science

How AI and automation are transforming both research and publishing

The ethics and equity considerations of AI-driven science

The importance of representation and global voices in genomics

Key Takeaways

True innovation thrives on collaboration—across labs, disciplines, and continents.

Publishing isn’t the end of science; it’s a catalyst for connection and progress.
Bridging basic discovery to clinical application requires persistence and shared purpose.

Transparency, communication, and mentorship are essential to the next wave of breakthroughs.

Relevant Resources: 

Wiley Advanced Portfolio 

Wiley’s Journal Finder

Genetics and Genomics: Advanced Science Collection 

Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections

Wiley's AI guidelines for Authors

Wiley’s ExplanAItions 2025: The evolution of AI in research

What Makes a Successful Submission Wiley Blog Post

Eligibility for access to Research4Life 

Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences

Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering

 

Relevant DNA Today Podcast Episode:

#337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors

#345 How To Talk About DNA Without Losing People: Strategies Part 1

#350 How To Talk About DNA Without Losing People: Strategies Part 2

#363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests) 

 

Connect With Us: 

Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. 

While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.”

Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! 

DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. 

See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].