Session Descriptions

Saturday, July 10, 2021

8:30 – 8:45 am

Welcome and Introductions
Debra Freedenberg, MD, PhD
Medical Director, Newborn Screening & Genetics, Texas Department of State Health Services

8:45 – 9:45 am

Non-Invasive Genetic Testing in Pregnancy:
What to Tell Parents
Susan Klugman, MD, FACOG, FACMG
Montefiore Medical Center – Albert Einstein College of Medicine
Presentation as a PDF
In the past, non-invasive prenatal tests were only recommended for women at high risk for carrying a baby with a chromosomal abnormality. High risk pregnancies include moms-to-be who are 35 or older, previously had a child with a genetic disorder, have a family history of a genetic condition, or concern about the results of another prenatal test. Today, genetic screening is offered to all pregnant women and usually discussed during the first prenatal visit. The decision to test is a personal one, and it is important for the family to understand the meaning of a test that is low risk, not resulted or high risk. Counseling phase is crucial. Attend this session to review available tests, current guidelines, and learn how to discuss the testing process and results with parents-to-be.

Session Objectives:

  • Describe available genetic tests, including the biologic specimen and basis for each test and the steps in the analysis and disclosure of results.
  • Describe the role of the physician, nurse, genetic counselor or clinic in working with families whose baby or minor child has received clinically actionable findings unrelated to the initial reason for testing.
  • List three issues that may concern families when genetic testing is done.
  • List three ethical issues that may arise related to genetic testing.

9:45 – 9:55 am Break

9:55 – 10:55 am

Genomic Medicine in Diverse Populations:
From Biobanks to Patients
Noura Abul-Husn, MD, PhD
Icahn School of Medicine at Mount Sinai
Presentation as a PDF
Genome-first approaches are used to evaluate the prevalence and clinical impact of human genetic variants in unselected patient populations. Implementation of a genomic screening program in a highly diverse biobank has improved healthcare understanding of the penetrance and phenotypic spectrum of medically actionable genetic conditions. This knowledge is needed to develop strategies optimizing the diagnosis and treatment of these conditions. After attending this session, participants will have a better understanding of how genome-first approaches in electronic health record-linked biobanks improve knowledge of genetic disease and implement genomic medicine in diverse populations.

Session Objectives:

  • Recognize how research biobanks embedded in health systems can drive genomic medicine
  • Devise strategies to implement genomic medicine in diverse populations

10:55 – 11:05 am Break

11:05 12:05 pm

Off Target Findings for Newborn Screenings
Melissa Wasserstein, MD
The Children’s Hospital at Montefiore
Presentation as a PDF
In this session, attendees will receive an overview of the ethical issues associated with detection of off target findings while screening newborns for complex disorders, including the challenges of informed consent, prognostication, and long-term follow up, and parental psychosocial impact.

Session Objectives:

  • Describe various off target findings that may be uncovered through newborn screening for complex disorders.
  • Define the ethical and practical challenges that off target findings pose in newborn screening.

12:05 – 12:15 pm Break

12:15 – 1:15 pm Lunch Session

The Patient Perspective:
Seeking Answers with Genetic Testing
Carlos Bacino, MD, FACMG
Texas Children’s Hospital, Baylor College of Medicine And Patient Families
Presentation as a PDF
Genetic diagnoses or test results have significant and far-reaching implications for family members. During session, a physician and patients will discuss the impact of genetic testing results on families.  Issues include the impact of testing on children and adolescents, identification of untreatable conditions, misattributed paternity, and results of unknown significance. Feelings can include shock, denial, guilt, blame, alienation, sadness, and futility. There may also be relief in understanding what the family will confront in the future. It is important that patients understand the cause of the disorder and their inability to cause or change genetic risk. Sometimes feelings of guilt and blame can be channelled into efforts at risk reduction through environmental modifications.

Session Objective:

  • Recognize the role of clinicians in discussing results of medically prescribed and commercially available molecular tests

1:15 – 1:25 pm Break

1:25 – 2:25 pm

Newborn Screening and Genomics:
Ethics, Resources and Tools to Support Families, Advocates, Public Health Partners, Clinicians and Researchers
Amy Brower, PhD
American College of Medical Genetics and Genomics
Presentation as a PDF
The increasing use of genomics in newborn screening has accelerated the need for the engagement of families and advocates with public health experts, clinicians and researchers. This session will highlight innovative approaches to create resources and tools to support these efforts, and will include an important discussion of ethical considerations based on an awareness of increasing health care disparities with population-based genomic screening. The presentation will provide a comprehensive overview and update for professionals who care for families with conditions identified through newborn screening.

Session Objectives:

  • Describe the key components of newborn screening in the United States.
  • List two emerging principles related to the use of genomics in the neonatal period.

2:25 – 2:35 pm Break

2:35 – 3:35 pm

New Advances in Genetic Testing
and Diagnoses in Rare Diseases
Carlos Bacino, MD, FACMG
Texas Children’s Hospital, Baylor College of Medicine
This session will discuss the approach to genetic testing in rare disorders including the use of exome, genome and RNA sequencing and provide some clinical examples. 

Session Objectives:

  • Discuss the advantages and limitations of exome sequencing.
  • Describe the sequencing in clinical research use of RNA and potential clinical applications

3:35 – 3:45 pm Break

3:45 – 4:45 pm

Increasing Use of Hereditary
Cancer Testing in Medicine
Sharon Plon, MD, PhD
Baylor College of Medicine/Texas Children’s Hospital
Presentation as a PDF
As patients are diagnosed with cancer predisposition syndromes, it is important to be familiar with the data that demonstrates that instituting defined cancer surveillance guidelines improves survival from cancer in patients with cancer predisposition syndromes compared to those that do not have increased surveillance. Dr. Plon will review recent large studies from multiple cancer centers that demonstrate the yield of cancer predisposition syndromes in cancer patients unselected for hereditary risk.  The presentation will review the increasing FDA approval of agents for the treatment of cancer based on the finding of cancer predisposition mutations in cancer patients resulting in increased guidelines that recommend genetic testing for cancer patients.

Session Objectives:

  • Describe how hereditary cancer testing is used to manage cancer risk.
  • Explain how hereditary cancer testing may be used to decide on cancer treatment regimens.

4:45 – 5:00 pm
Conference Wrap-Up / Closing Remarks