Medical Genetics for the Internist with Dr. Alsadah

Podcast Transcript

Welcome to the Medicine Grand Rounder Podcast!

My name is Dick Wardrop, and I am a Med Peds clinician educator, Program Director, and hospitalist at the Cleveland Clinic in Cleveland, Ohio. 

We are so proud to host another great episode of our podcast intentionally titled to give you all that you may expect out of high quality, evidence-based Medicine Grand Rounds, right at your fingertips and in right your ears.

Our program is funded by a grant from the Cleveland Clinic Education Institute, but the views expressed herein are not necessarily the views of Cleveland Clinic. 

The format of our production is amazingly simple: we host world class clinical experts in a variety of specialties related to Internal Medicine and put forth important and high impact clinical questions related to the practice of general medicine, with intended impact for providers at all levels of medicine including students, APP, generalists, and seasoned veterans. 

Today's Topic is Medical Genetics for the Interest 

Today, we have a fantastic episode planned. We are honored to have with us several very important people  First my co-host and Founding Podcaster Dr. Arjun Chatterjee, current PGY-3 in the Cleveland Clinic Internal Medicine Residency and future GI fellow at Cleveland Clinic. 

Second, we have Dr. Mark Orland, current PGY-2 and soon to be Bernadine Healy Fellowship Scholar within the PRISM PHD Program here at Cleveland Clinic Learner Research Institute. Mark is a true trailblazer and will be our inaugural member of the ASBIM research Pathway in our residency. 

Finally, our Faculty Expert Dr. Alsadah joining us. Dr. Alsadah is a board-certified geneticist and pediatrician, who completed his training at UCSF and University of Illinois at Chicago.  He is part of the Cleveland Clinic’s Genomic Medicine Institute, and started the Undiagnosed Disease Clinic last year, where he utilizes whole genome sequencing as a model of care.

Thank you for joining us here today, Drs. Alsadah, Chatterjee, and Orland.

To our honored guests, please take a moment to say hi, tell us about yourselves, and start right in on the questions.

Dr. Wardrop Question 1 – What does a geneticist do? What was your motivation to become a geneticist?

• Evaluate patients with suspected genetic diseases.
• Solving mysteries.
• Helping patients and families.

Mark Question 2 – What types of patients do you normally see in practice?

• 70% pediatrics, 30% adults.
• Personal history and family history.

Arjun Question 3 - What types of diagnoses/syndromes have you been able to make your clinic and how has this impacted patient care?

• Rare syndromes e.g MED12-related disorder.
• Expanding phenotypes.
• Atypical presentation of known syndromes.

Mark Question 4 (Mark) – Currently, the majority of genetics-trained physicians have a pediatrics background, with less than 100 in the country IM trained. How can genetics be used/leveraged within internal medicine?

• Expand knowledge and collaboration
• Know common referral indications (developmental delay, intractable epilepsy, idiopathic progressive neuropathy, family history, etc)

Case I. 82 yo M with a history of progressive bilateral neuropathy in the lower extremities for which all functional causes, including diabetes, vitamin deficiencies, and infectious etiologies have been ruled out. 

Mark Question 5 – How would you approach a patient like this?

• Personal history and family history in his son.
• Unexplained progressive neuropathy.
• Panels vs WGS.

Mark Question 6 – With this patient, if a diagnosis does come back after genetic testing, what do you do with that diagnosis? 

• MME, and then transcriptome.

Arjun Question 7 – Currently, we hear and see testing including next-generation sequencing, whole exome sequencing and whole genome sequencing. What exactly do these mean?

• Technology, diagnostic yield, advantages and limitations.

Arjun Question 8 – What is the affordability of interventions and testing such as these?

• Cost, trend over time.

Mark Question 9 – Barring ethical conversations, one of the topics that comes up in the news is the idea of preimplantation genetic testing. Recently, even gene editing of different genes in the embryo, such as CFTR, has started. At this time, disregarding the moral/ethical discussion on this, what are your thoughts on where this technology might go?

• I can give few examples of successful and approved gene therapies but it will be brief as CCF is currently not a major gene therapy center. 

Dr. Wardrop Question 10 – Any advice for those aspiring geneticists, or internists wanting to learn more than what we discussed in our podcast today?

• Where is modern medicine heading? Individualized care.

Dr. Wardrop: [Closing Thoughts] To our team, thank you so much for your wonderful discussion. We have heard some practical but hopefully illuminating points to help practitioners of all stripes navigate this important clinical topic. 

To our listeners, thank you for joining us on this deep dive into this important area that has explored the comprehensive approach to Medical genetics in practice. We hope you found this episode both educational and engaging. 

On behalf of the Podcast  team, thank you to our special guests Dr. Orland and Alsadah

I certainly enjoyed this time with our most impressive guests and imagine that many of our listeners will find the information useful and essential in their practice. 

Thank you also to the Cleveland Clinic Education Institute for the educational support of this project.

Until next time, please enjoy this and future Podcasts from the Cleveland Clinic Medicine Grand Rounders.