Genetics

Slides | Recording

Date: March 8, 2022

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

Faculty: Leah Burke, MD; Chair, AAP Council on Genetics

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

• Identify the challenges of a genetic diagnosis for school-aged children
• Discuss the disability landscape for children
• Review some of the technologies around disability, including the GEMSS website
• Utilize the GEMSS website to address problems associated with particular genetic syndromes

Additional Resources

Click here to access the GEMSS Website

Slides | Recording

Date: February 8, 2022

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

Faculty: Stephanie Sacharow, MD; Medical Geneticist, Boston Children’s Hospital

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

• Identify the milestones that lead to interest in intellectual disability syndromes and the discovery of PKU
• Understand how newborn screening began and evolved, and the impact of newborn screening
• Review the path to treatment and prevention of intellectual disability in affected individuals
• Discuss conventional dietary therapy and novel therapies for PKU, as well as new treatments in clinical trials

Slides | 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