pharmacogenomics

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Can you imagine the power of understanding your unique genetic profile to manage health conditions?  Discover the interaction of medications and nutrition with our genes and the crucial role of pharmacists in guaranteeing accurate medication dosage.


Are you struggling with chronic pain and feel like you’ve tried everything to find relief? Are you frustrated by medications that don't seem to help or even make you feel worse? 

By the time you finish listening, you’ll discover:

•Why your genetics play a role in how you experience pain and the medications you're prescribed.

•Three tips to help manage your pain through nutrition, movement and community.

•A free workbook to help you build healthy habits and self-care routines.

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Listen to this episode of People of Precision Health to learn about:

• Community approaches to address cultural disparities and underrepresentation in research 
• Understanding and addressing cultural challenges and other barriers to research participation
• How to create and nurture partnerships with research participants
• The value of diversity in the medical research community
• Many interesting use cases for technology in the research space
• Where precision medicine is going and how we can get there

The Power of Pharmacogenomics

Jeff explains how pharmacogenomics, the study of how genes affect a person's response to medications, can revolutionize healthcare. By understanding a patient's genetic makeup, healthcare providers can prescribe the right medication and dosage, reducing trial and error, improving treatment effectiveness, and minimizing side effects. This approach acknowledges that each person is unique and recognizes the complex interplay of genetics and non-genetic factors to determine health outcomes.

Real-World Impact of Pharmacogenomics

Jeff provides real-world examples of how pharmacogenomics can impact medication management. He discusses the role of the medication Clopidogrel, used with patients who are recieving a stent. He explains how genetic variations can affect the response to this medication, highlighting the importance of pharmacogenomics in ensuring effective treatment.

The Future of Healthcare

Jeff discusses the future of healthcare, including the potential of wearable and implantable devices. He emphasizes the importance of giving healthcare professionals more tools to react in real-time and make informed decisions about patient care. He also discusses how companies like Coriell Life Sciences offer comprehensive medication management programs, highlighting the importance of scalability and accessibility in the adoption of pharmacogenomics.

Allopurinol hypersensitivity syndrome (AHS) affects approximately 1 in 1,000 patients prescribed allopurinol, with reported mortality rates between 20% and 25%. The risk of AHS is nearly 100 times higher in carriers of the HLA-B*58:01 allele than in noncarriers. Populations with a high allele frequency include Han Chinese (6%-8%), Korean (12%), and Thai (6%-8%) people.

In this episode, Drs. Wid Yaseen and Jonathan Zipursky discuss their paper published in CMAJ, titled "Five things to know about…allopurinol hypersensitivity syndrome". Dr. Jonathan Zipursky is a general internist, clinical pharmacologist, and clinician scientist at Sunnybrook Health Sciences Centre. Dr. Yaseen is a second-year internal medicine resident physician at the University of Toronto. They argue that the syndrome's frequency is often underestimated and emphasize the importance of genetic testing in susceptible populations.

Next, Dr. David Juurlink broadens the discussion beyond allopurinol to describe other common medications whose effectiveness and safety are significantly influenced by genetic predispositions. Dr. Juurlnk is a staff internist and head of division of clinical pharmacology and toxicology at Sunnybrook Health Sciences Centre in Toronto. He is also a medical toxicologist at the Ontario Poison Centre.  He explores the need for expanded genetic testing to protect patients and ensure proper dosing.

Join us as we explore medical solutions that address the urgent need to change healthcare. Reach out to us about this or any episode you hear. Or tell us about something you'd like to hear on the leading Canadian medical podcast.

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Our week of "Greatest Hits" episodes from the vault continues with Scott Friedman's fascinating presentation on precision medicine in the context of senescent stellate cells and fibrosis, first posted in October 2021. Scott combines erudition and unparalleled knowledge of the subjects he is discussing with a storyteller's ability to paint clear pictures and make complex issues both simple and lively.

Scott, known to some as the "Father of Fibrosis," starts this discussion talking about his own history in fibrosis research and then the history of the stellate cell and its role in where precision medicine is heading. The rest of the episode touches on issues ranging from the importance of omics in learning about the disease and the future of precision medicine to target disease to today, specifically, the downside of being, as Scott puts it, "yoked to biopsy." In the aftermath, listeners (including other leading KOLs) described this episode as a "coup," a "treasure" and "something you can find only at Surfing the NASH Tsunami." If you missed this episode the first time around, download it now and make it your weekend (or vacation week) listen.

Access to medical products has increased considerably in Africa in recent years, but safety monitoring systems haven’t exactly kept pace and many African countries still struggle to address safety issues. We sat down with Eleni Aklillu and Abbie Barry of the PROFORMA project to learn about their efforts to strengthen pharmacovigilance capacity in East Africa – especially within public health programmes.

Tune in to find out:

• How comorbidities and genetic variation affect drug safety monitoring
• Why pharmacovigilance centres should strengthen their ties with academia
• How to apply the PROFORMA model elsewhere 

Want to know more?

• Low- and middle-income countries like the PROFORMA target nations face unique challenges in establishing robust pharmacovigilance systems, as described in this comprehensive review.
• PROFORMA’s baseline assessment of national pharmacovigilance systems in Ethiopia, Kenya, Rwanda, and Tanzania identified gaps and laid the groundwork for targeted interventions.
• Their subsequent assessment of pharmacovigilance capacity within the neglected tropical diseases programmes highlighted the urgent need for collaboration between those programmes and the national pharmacovigilance centres.
• You can read about PROFORMA’s accomplishments in more detail on Uppsala Reports and on the PROFORMA website, which also lists the consortium’s publications and upcoming events.

For more on the influence of genetic factors on drug response, revisit this interview with UMC’s pharmacogenetics specialist Qun-Ying Yue or this Uppsala Reports Long Read on pharmacogenomics research in Africa.

Join the conversation on social media
Follow us on X, LinkedIn, or Facebook and share your thoughts about the show with the hashtag #DrugSafetyMatters.

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About UMC
Read more about Uppsala Monitoring Centre and how we work to advance medicines safety.

The entire panel enters a discussion around histopathology's shortcomings, ranging from the fact that the NAFLD Activity score does not correlate with liver function to inconsistencies in reading all elements of biopsy.

This conversation revolves around the challenges posed by histopathology's flaws. Scott Friedman reminds us that NAFLD Activity scores do not correlate with outcomes, Roger Green reminds us that coder reliability scores would not be accepted in marketing research and Stephen Harrison describes the impact of these flaws on investors and drug/device companies. In the end, Scott provides a peak at some of the topics his lab is exploring and the entire panel discusses what they consider key takeaways from this engrossing episode.

Stephen Harrison and Jörn Schattenberg join the conversation with questions that focus on patient treatment and drug development.

The ultimate payoffs from Precision Medicine will come in better targeted, streamlined drug development along with improve ability to deliver the right drug to each patient. In this conversation, topics range from how cells signal distress to the value imaging can bring and, finally, how being "yoked to biopsy" holds drug development back.

Scott Friedman reprises key elements from his Paris NASH talk, focusing on Precision Medicine and some key factors that affect hepatic function that Precision Medicine must address.

Scott Friedman describes Precision Medicine as "the right treatment or diagnostic for the right patient at the right time." In this precís of his Paris NASH talk, he discusses the factors that shape Precision Medicine for hepatic function, including genetics, microbiome, human genome and CAR-T development. He concludes this opening discussion by focusing on stellate cells, starting with the history of stellate cell research and how they got their current name, and going on to discuss senescent, or aging, stellate cells, the "ultimate bad boys" of liver disease.

Scott Friedman, the "Father of Fibrosis", and Jörn Schattenberg join the Surfers to discuss Scott's recent Paris NASH and National Liver Congress talks on Precision Medicine, imaging and liver function.

Scott Friedman's Paris NASH talk on Precision Medicine made a strong impression on Stephen and Jörn, along with our listeners. The conversation summary of that talk and Lars Johansson's (S2 E46.2) is the largest conversation and third largest post in the history of the podcast.

Scott joined us to discuss precision medicine, imaging, stellate cells and an array of additional topics. Highlights include:

4:08 – Scott Friedman discusses his career in studying fibrosis, stellate cells and a range of other liver function issues
9:13 – Session icebreakers: Scott’s fun fact and everyone’s good thing from the past week
12:46 – Stephen Harrison introduces Scott by discussing what he learned at Paris NASH
16:00 – Scott begins his remarks and goes on to discuss Precision Medicine in the context of liver disease
19:02 – Why it means so much that precision medicine includes precision of therapies
19:39 – How the stellate cell got its name
21:04 –The power of technologies lies in single cell sequencing and analyses, and what it means for “us stellate cell geeks”
23:49 – The importance of senescent stellate cells
24:45 – An exciting future for CAR-T cells
25:40 – Jörn Schattenberg asks whether and how we can target drug therapies to specific patients
26:38 – Scott: Pharmacogenomics are the “known” part of how precision might affect prescribing and drug selection in the future
27:46 – The importance of endophenotypes: liver samples look the same under the microscope may reflect quite different causes of disease
28:50 – The ambitious effort to develop software that takes the mass of patient information and distills it into a clear picture and simple recommendation
30:02 – Stephen: do we know enough to target therapies to specific types of patients
31:14 – Scott: What we know about PNPLA3 cells, their variants and patient diagnosis and treatment is a good example of what we can learn over time
32:08 – Does part of the solution lie in pinpointing how a cell signals distress?
33:16 – The significant role imaging can play in improving precision
34:25 – Implications of precision medicine for drug development, and how being “yoked to biopsy” and the NAFLD Activity Score hold us back
38:18 – Should we focus our endpoints more on liver function?
39:38 – Is biopsy the “Premarin of diagnostics” – so highly and unreliably variable that we cannot replicate results?
41:04 – Getting beyond the biopsy: the imperative, the path and the two major challenges
44:02 – Putting existing tissue samples to better use: availability of sample, past discussions, potential solutions, practical considerations
48:06 – “Very cool” research “cooking” in Scott’s lab
49:02 – The importance of mentorship
49:24 – “Final question” to wrap up session
52:52 – Scott: there are good reasons for optimism in our history
55:21 – Business section

HAVE YOU EVER WONDERED WHY THIS COMPLEX MACHINE WE CALL THE HUMAN BODY DOESN’T HAVE AN OWNER’S MANUAL? In today’s episode, we’ll discuss why this isn’t good, and you’ll learn how to find your personal owner’s manual.

Show Notes
Having no owner's manual for the human body creates:
01:47  Problem #1- I see is that it forces us to farm out the responsibility for our health, our wellness, and our longevity to other people, to people that we call experts.

02:17  Problem #2 - I see is that it creates a scenario that develops in us a mindset of dependence. and dare I say entitlement

03:59  Problem #3 -  is that it puts us in a place of selling our health, our wellness, and our longevity to the highest bidder.

06:55 Pharmacogenomics, just a fancy term for saying that we can now look at your genetic information and determine which medications you should take and which medications you shouldn't take

07:44 Epigenetics are those factors that can modify your human genome

09:23 This is the closest thing we have to an owner's manual for our bodies...

18:16 How to determine which primary genetic Domino needs to be toppled first

Be sure to check out Dr. Brian's Gene Hack Boot Camp so you can learn how to hack your genetics to improve your performance and life.
https://drbriangbrown.com/genehack/bootcamp

Genetic variation is one of the reasons people differ in their response to medicines. Understanding that variation can inform more refined choices of drugs and doses – ultimately preventing undesired side effects. Join us as we discuss past, present and future of pharmacogenomics with Uppsala Monitoring Centre’s Qun-Ying Yue.

Tune in to find out:

• How genetic biomarkers can guide medicine use and dosing recommendations
• What we need to effectively implement genetic-based prescribing in clinical practice
• How increasing diversity in clinical trials can aid pharmacogenomics research 

Want to know more?

Here are a few resources to get you started:

• SWEDEGENE is a Swedish nation-wide DNA sample collection established to facilitate pharmacogenomic studies of serious adverse drug reactions.
• The African continent, with its genetically diverse populations, is a treasure trove of pharmacogenomics data – as long as African patients are included in drug studies, as we discussed in this Uppsala Reports Long Read episode.
• As a past member of the European Medicines Agency’s Pharmacogenomics Working Party, Ying contributed to the “Guideline on key aspects for the use of pharmacogenomic methodologies in the pharmacovigilance evaluation of medicinal products”.
• Ying also chairs ISoP’s Pharmacogenomics Special Interest Group, whose work and objectives have been described in Uppsala Reports and Drug Safety.

Join the conversation on social media
Follow us on X, LinkedIn, or Facebook and share your thoughts about the show with the hashtag #DrugSafetyMatters.

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About UMC
Read more about Uppsala Monitoring Centre and how we work to advance medicines safety.

Meet Tanya Goldfrad, a pharmacist with over 25 years of practice and owner of TG Health and Wellness.  Her expertise includes: Teen health, woman’s health, and mental illness.  She helps patients recognize and advocate  for their unique needs.

Topics Covered:

00:30 - Mandy introduces her friend Tanya as a pharmacist, a diabetic educator, pharmacogenomics, researcher, and a health advocate. She uses technology to find what medication is best suited for you and which vitamins are essential to make you feel and function at your best.

1:05  - Tanya shares her role as a pharmacist and how she deals with patients versus doctor’s prescriptions.

1:19 - Every individual has different levels of bio individuality which means each individual has their own genetic makeup to clearly understand why we have to make things fit for them versus making people fit to the medication.

2:35 - What is the trend growing now among private payers?

3:48 - What is the importance of understanding genetic need and personal need?

6:04 - Why is Plavix called a pro-drug? Is it really working inside our body?

8:35 - Nutrigenomics. Eat according to your genes.

9:51 - How Nutrigenomics helps you.

11:52 - Pharmacogenetics vs. Pharmacogenomics

13:15 - What is the importance of being tested according to treatment goals?

15:00 - What it's like to have invested enough in yourself, your children and your husband but haven’t built the life you want.

18:08 - What is this test all about?

19:30 - Tanya’s public health degree-health literacy

21:05 - You have to be your own advocate  with your health. Nobody knows your body like you do.

22:11- Some medical practitioners have corporate attitudes. 

22:41 - Check out Tanya’s website @ tanyagoldfreda.com

23:43 - Why sets Tanya’s business apart from anybody else?

25:39 - Tanya’s hardest part about being an entrepreneur and why she loves it.

28:15 - Tanya’s motivation 

36:51 - Her vision for the next 5 years

39:22 - Take the chance you are worth it

41:03 - Contact Tanya on Linked in as Tanya Goldfrad. 

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• Tanyagoldfrad.com
• linked in

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As the cradle of modern humanity, the African continent is home to populations with high levels of genetic diversity. But while this diversity has implications for the safety and efficacy of many drugs, African patients remain underrepresented in drug studies. In fact, while more than 400 medicines have pharmacogenetics information and public guidelines available, only 15 have been studied in African populations. Thankfully efforts to boost pharmacogenomics research in Africa are now underway.

This episode is part of the Uppsala Reports Long Reads series – the most topical stories from UMC’s pharmacovigilance magazine, brought to you in audio format. Find the original article here.

Tune in to find out:

• How drug metabolism is affected by genetic variation
• Why African patients urgently need genotype-guided drug dosing 
• How different research initiatives are trying to fill the knowledge gap

Want to know more?

A review of the disease burden in Africa concluded that a pharmacogenomics-based healthcare approach – where drug choices and doses are optimised for each patient ­– would benefit the genetically diverse African population.

Clinical pharmacogenetics studies conducted in African populations have so far highlighted several pharmacogenetics associations ­– but also gaps in knowledge.

The African Pharmacogenomics Consortium drives pharmacogenomics research in Africa and aims to improve the safety of drugs for use in African populations.

The Global Alliance for Genomics and Health aims to enable the safe and effective sharing of genomic and health-related data between different research and healthcare institutions.

Finally, don’t forget to ­subscribe to the monthly Uppsala Reports newsletter for free regular updates from the world of pharmacovigilance.

Join the conversation on social media
Follow us on X, LinkedIn, or Facebook and share your thoughts about the show with the hashtag #DrugSafetyMatters.

Got a story to share?
We’re always looking for new content and interesting people to interview. If you have a great idea for a show, get in touch!

About UMC
Read more about Uppsala Monitoring Centre and how we work to advance medicines safety.

In today’s episode, Cedarville alumnus, Dr. Ryley Uber, will be discussing the practice of pharmacogenomics, which is how an individual’s genetic code can affect the way different medications interact and are processed within the body. The implications of research in this field are enormous. From pharmacovigilance to personalized medication dosing, everyone involved in the medication process stands to benefit from pharmacogenomic data. Dr. Uber’s interest in pharmacogenomics began during his time at Cedarville, which led to an internship studying pharmacogenomics with the FDA. He then serves as the first Clinical Pharmacogenomics Fellow with the University of Pittsburgh School of Pharmacy and Medical Center. He now serves as Pharmacogenomics Program Director for Geisinger Health. Listen in to hear Dr. Uber discuss how pharmacogenomics is being implemented in the medical world and how it may affect your medication use for the better.

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