Genetics

The Weitzman Learning Academy is excited to partner with the New England Regional Genetics Network (NERGN) to improve access to genetics education and genetics services for primary care providers free of charge.

Our educational offerings include webinars on specific genetic hot topics, as well as reviewing genetics cases during identified Project ECHO sessions.

Additionally, ConferMed is providing free eConsults for New England providers who may have questions regarding genetic cases.

Learn More About the New England Regional Genetics Network

The New England Regional Genetics Network (NERGN) aims to improve health equity and health outcomes in individuals with genetic conditions, reduce morbidity and mortality caused by genetic conditions (including congenital and metabolic disorders); and to improve the quality of coordinated and comprehensive genetic services to children and their families. The Weitzman Learning Academy and ConferMed are proud to partner with NERGN to aid primary care providers in their care. 

Live and Recorded Webinars

Below is a snapshot of our 2021-2022 Genetics series.

Click here to view the details of the webinar series and past 2019, 2020 & 2021 recordings.

TopicDateTime 
Genetics Resources for the Primary Care TeamTuesday, November 912-1pm ET / 9-10am PT
Referrals to GeneticsTuesday, December 1412-1pm ET / 9-10am PT
Financial Aspects of Genetic TestingTuesday, January 1112-1pm ET / 9-10am PT
Newborn Screening & Genetic TherapiesTuesday, February 812-1pm ET / 9-10am PT
School-Aged Patients & Genetic ConsiderationsTuesday March 812-1pm ET / 9-10am PT

While these webinars are geared towards New England licensed providers, this series is open nationally to any provider who wishes to expand their knowledge.

Below you will find recordings from our 2019, 2020, and 2021 sessions. 

Previous Genetics Educational Activities

To view our previous ECHO sessions from 2018 & 2019, click here. 

If you were not able to attend any of our live sessions, all are available to view at no cost.

Click the topics below for the session details, slides, and recordings.

Series Objectives:

  • Improve the capacity of primary care providers to successfully collaborate with genetic specialists in the care of their patients
  • Clarify roles of primary care providers and specialists in the newborn screening and genetic testing process
  • Share insights into potential benefits and pitfalls brought about by Direct to Consumer testing initiatives
  • Provide a framework for understanding how uncommon diagnoses can underlie more common symptoms
  • Develop primary care provider understanding of some of the unique challenges encountered when discussing genetic conditions with patients and their families
  • Develop primary care provider understanding of some of the unique challenges encountered when discussing genetic conditions with specific population groups, such as immigrants and refugees.
  • Increase the primary care provider’s understanding of the nature of genetic testing, including their benefits and limitations, false positives and false negative results.

Recording

Date: January 11, 2022

Time: 12pm-1pm ET / 9am-10am PT

Faculty: Matt Fickie, MD; Senior Medical Director, Highmark Inc.

At the end of this session, participants will be able to:

  • List steps in the appeal process
  • Understand how a practitioner can improve their chances of approval
  • Examine the ethical issues involved in Duty to Recontact

Slides | Recording

Date: December 14, 2021

Time: 12pm-1pm ET / 9am-10am PT

Faculty: Mark Korson, MD; Director of Physician Support & Director of Education, VMP Genetics

At the end of this session, participants will be able to:

  • Clarify an approach for determining the best family member to undergo an evaluation and choosing the most appropriate clinic
  • Identify the factors that can help ensure a successful experience in the clinic
  • List the reasons why a patient or family should return to Genetics clinic for a follow-up evaluation

Slides | Recording

Date: November 9, 2021

Time: 12pm-1pm ET / 9am-10am PT

Faculty: Jodi Hoffman, MD;  Chief, Division of Genetics, Department of Pediatrics, Boston Medical Center
Medical Director, Boston University Genetic Counseling Program

At the end of this session, participants will be able to:

  • Locate guides for next steps for an abnormal newborn screen
  • Use medical terminology to describe patients’ features
  • Unite several features to find a differential diagnosis
  • Provide management outlines to patients with genetic diagnoses
  • Identify patient-friendly resources about genetic conditions

Additional Resources

PCP Resource Summary

Slides | Recording

Date: May 10, 2021

Faculty: Dr. Leah Burke

At the end of this session, participants will be able to:

      • Use cases to inform the decision making needed for a genetics referral
      • Understand the components of a genetic evaluation
      • Become familiar with three syndromes in which the presenting symptom can be a heart murmur

Slides | Recording 

Date: April 12, 2021

Faulty: Dr. Leah Burke, MD

At the end of this session, participants will be able to:

  • Review the parts of various genetic and genomic testing results: Fragile X DNA, microarray, genetic panels, exome sequencing
  • Demonstrate how the variants are classified in the interpretation of results
  • Use case reports to demonstrate how more information can be obtained

Date: March 8th, 2021

Slides | Recording

Videos shown during the session:

Faculty:  Dr. Mark Korson, MD

During this session, we will watch a metabolic geneticist as he completes “clinical rounds” online. We will hear 2-3 patients & parents (video recordings) who discuss what is it like to experience a metabolic disorder, either personally or in their child.  

At the end of this session, participants will be able to:

  • Demonstrate what is involved in a visit to a genetic or metabolic clinic
  • Review the nature of some clinical cases that present to a metabolic disorder
  • Describe the challenges of a patient and/or family in living with a metabolic disorder

This recording is from our reoccurring Complex Integrated Pediatrics ECHO. The title of the session is Genetics Education Materials for School Success (GEMSS)

The website that was reviewed can be visited here: https://www.negenetics.org/genetic-education-materials-gemss 

Slides Recording 

Date: February 10th, 2021

Faculty: Dr. Leah Burke, MD 

 

At the end of this session, participants will be able to:

  • Be familiar with the GEMSS website and its features
  • Navigate through the website, using case studies to demonstrate the uses

Slides | Recording 

Date:: February 8th, 2021

Faculty: Dr. Leah Burke, MD 

 

At the end of this session, participants will be able to:

  • Review pigmentary differences in skin that might indicate a genetic disorder
  • Describe common skin findings that indicate a need for a genetic evaluation
  • Recognize the differences in age of onset, family history, number of lesions, or other unusual presentations that should alert the primary care provider

This session builds off the 2020 “Red Flags” session. Scroll down to our April 28, 2020 session to view the recording. 

Slides | Video 

Date: January 11, 2021

Faculty:  Dr. Mark Korson, MD

At the end of this session, participants will be able to:

 

    • Review how simple biochemical tests indicate important pathophysiologic scenarios.
    • Describe patterns of routine biochemical testing that can increase suspicion about an underlying metabolic disease
    • Recognize the uncommon physiological significance of certain chemistry tests

This recording is from our reoccurring Complex Integrated Pediatrics ECHO. The title of the session is Genetic and Genomic Testing: Pediatric Perspective

Recording | Slides 

Date: December 9, 2020 

Faculty:  Dr. Leah Burke, MD

At the end of this session, participants will be able to:

  • Review the various types of genetics and genomic testing and the circumstances in which each of them is used.
  • Define the limitations of various types of genetic and genomic testing.
  • Discuss the implications of variants of unknown significance for the patient and family.

Slides | Recording 

Date: May 26, 2020

Faculty: Dr. Mark Korson, MD

Objectives:

By the end of this session, you will be able to

  • Describe the role of the PCP around newborn screening issues
  • Identify how the PCP can participate in patient care when disorders are associated with episodic clinical and/or biochemical decompensation
  • Review the role of the PCP in the management of chronic and/or multi-system disease
  • Recognize the impact of patients with chronic disease on a primary practice

Slides | Recording 

Date: April 28, 2020

Faculty: Dr. Leah Burke, MD & Dr. Mark Korson, MD

Objectives:

By the end of this session, you will be able to:

  • Review the genetic and genomic testing modalities
  • Review how simple biochemical tests that can determine the competence of human metabolism
  • Describe a few findings on routine biochemical testing that can increase suspicion about an underlying metabolic disease
  • Identify the clinical and family history findings that raise a concern for a genetic disorder

Slides | Recording 

Date: February 18th, 2020

Faculty: Dr. Leah Burke, MD & Dr. Mark Korson, MD

Objectives:

By the end of this session, you will be able to 

  • Identify some characteristics of a patient’s medical condition that should raise concerns about a genetic or metabolic disease
  • Describe the problems inherent in a “clinical diagnosis”
  • List what a PCP can do to enhance the efficacy of a referral to a geneticist

This session builds off the previous Newborn Screening Webinars, part I and II, below. 

Slides | Recording

Date: January 28, 2020

Faculty: Dr. Leah Burke, MD & Dr. Mark Korson, MD

Objectives: 

By the end of this session, you will be able to 

  • Review the important aspects about newborn screening discussed in Part I and II
  • Discuss key clinical aspects of the latest diseases added to the newborn screen
  • Clarify the roles of primary care providers and specialists in the newborn screening process associated with these disorders
  • Summarize what diseases on the screen require urgent referrals and why
  • Determine the role of the PCP in supporting families through the newborn screening

Recording

Date: May 21, 2019

Faculty: Dr. Leah Burke, MD & Hibo Omer, MPH

Objectives:

 

  • Discuss some of the common barriers to health care access faced by immigrants and refugees
  • Have an improved understanding of some of the unique challenges encountered when discussing genetic conditions with specific population groups
  • Identify state and national resources that can aid immigrant and refugee families in understanding more about how to live with a genetic condition and gain access to needed resources

Recording

Date: April 23, 2019

Faculty: Dr. Mark Korson, MD

Objectives:

 

  • Identify common symptoms seen in general practice that can be associated with inborn errors of metabolism
  • Review the pathophysiology underlying the symptom
  • Determine a quick plan to help the patient get a diagnosis

Recording

Date: March 26, 2019

Faculty: Dr. Leah Burke, MD

Objectives:

  • Describe the differences between Direct to Consumer testing and clinic testing
  • Describe the regulations concerning Direct to Consumer testing
  • Describe the pharmacogenetics in the Direct to Consumer testing world
  • Delineate the role of the primary care provider in ordering and interpreting these tests

Slides | Recording

Date: March 12, 2019

Faculty: Dr. Leah Burke, MD & Dr. Mark Korson, MD

Objectives:

 

  • Describe the history of newborn screening and how new disorders are added
  • Understand the significance of an abnormal newborn screen
  • Define the role(s) of the primary care physician in the newborn screening process
  • Apply learned principles to adapted case studies

Slides | Recording

Date: February 26, 2019

Faculty: Dr. Mark Korson, MD & Dr. Leah Burke, MD

Objectives:

 

  • Describe the history of newborn screening and how new disorders are added
  • Understand the significance of an abnormal newborn screen
  • Define the role(s) of the primary care physician in the newborn screening process
  • Apply learned principles to adapted case studies

Weitzman ECHO

Weitzman ECHO (Extension for Community Health Outcomes) Complex Integrated Pediatrics provides specialty support for primary care providers seeking to gain expertise in the management of certain complex illnesses and conditions. ECHO is a monthly video-based learning collaborative for primary care & behavioral health providers that is divided between didactics and case presentations with expert recommendations.

We are currently planning our drop-in ECHO sessions for 2022; click here to view past recordings. 

eConsults

ConferMed is a telehealth solution where providers can have their questions answered by experts in the field. A provider can submit a question and our licensed specialists will send the answer back within two business days. In partnership with NERGN, ConferMed is pleased to offer genetics consults free of charge. 

This opportunity is only available to New England licensed providers only. 

Learn more.