Program

Texas Genetics Conference
WARP SPEED GENETICS: From Bench to Bedside

8:30 – 8:45 amWelcome Introductions
8:45 – 9:45 amNon-Invasive Genetic Testing in Pregnancy: What to Tell Parents
9:45 – 9:55 amBreak
9:55 – 10:55 amNewborn Screening and Genomics: Ethical Issues, Resources and Tools
10:55 – 11:05 amBreak
11:05 am – 12:05 pmA New Era in Therapies for Genetic Disorders
12:05 – 12:15 pmBreak
12:15 – 1:15 pmParents Discuss Their Personal Journey with
Genetic Testing and the Impact on the Family
1:15 – 1:25 pmBreak
1:25 – 2:25 pmThe Undiagnosed Diseases Network: Past, Present, Future
2:25 – 2:35 pmBreak
2:35 – 3:35 pmRisk-Based Prevention: Scaling Genomic Applications for Large Populations
3:35 – 3:45 pmBreak
3:45 – 4:45 pmCompounding Disparities in Genetic Testing
for Cancer Predisposition in South Texas
4:45 – 5:00 pmConference Wrap Up

Session Descriptions


Saturday, July 30, 2022

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
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. The counseling phase is especially crucial. Attend this session to review available tests, current guidelines, and learn how to discuss the testing process and results with parents-to-be.
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 of concern that may arise for 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

Newborn Screening and Genomics: Ethical Issues, Resources and Tools
Amy Brower, PhD
American College of Medical Genetics and Genomics
The increasing use of genomics in newborn screening has accelerated the need for families and patient advocates to engage with public health experts, clinicians and researchers. This session will highlight innovative approaches to creating resources and tools to support these efforts, and will include an important discussion on ethical considerations in light of increasing awareness surrounding 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.
Objectives:

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

10:55 – 11:05 am Break

 

11:05 12:05 pm

A New Era in Therapies for Genetic Disorders
Jerry Vockley, MD, PhD, FACMG
Division Director, Genetic and Genomic Medicine, Cleveland Family Endowed Chair in Pediatric Research
Professor of Pediatrics and Human Genetics, and Director, Center for Rare Disease Therapy
For decades, gene therapy has been the ultimate goal for therapy of genetic disorders, replacing or augmenting a damaged copy of a gene with one that works, leading to a cure. While gene therapy has indeed transitioned from pipe dream to evolving reality, new insights into the pathophysiology of genetic disease have provided additional opportunities to develop new therapies in a more rapid fashion than the traditional approach of undirected screening of chemical libraries for molecules with appropriate biological function. This talk will review the scope of new treatments that promise to revolutionize the field of clinical genetics, transforming it from a primarily diagnostic one, to one with a focus on therapy.
Objectives:

  • Trace the path of development of new treatments based on cellular pathophysiology
  • Define the need for novel approaches to clinical trials for rare diseases

12:05 – 12:15 pm Break

 

12:15 – 1:15 pm Lunch Session

Parents Discuss Their Personal Journey
with Genetic Testing and the Impact on the Family
Carlos Bacino, MD, FACMG
Texas Children’s Hospital, Baylor College of Medicine And Patient Families
While advances in genomic technology and an increase in the number of gene-disease associations have helped reduce the number of individuals living without a diagnosis, the journey can still be difficult. Genetic diagnoses or test results have significant and far-reaching implications for family members. Some parents hope that their child’s test will have a direct effect on their child’s diagnosis; others believe that results will be definitive; while others recognize testing limitations. During this panel discussion, a physician and patients will discuss the impact of genetic testing results on families and reflect on their personal journey.
Objectives:

  • Describe the role of the physician, nurse, geneticist or clinic in working with families whose baby or minor child has received clinically actionable findings unrelated to the initial reason for testing.
  • 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

The Undiagnosed Diseases Network: Past, Present, Future
Brendan Lee, MD, PhD
Department of Molecular and Human Genetics, Baylor College of Medicine
The National Institutes of Health is a multi-center collaboration focused on applying in depth clinical phenotyping and multi-omic analysis to make disease diagnosis in patients while advancing scientific discovery and treatments. The Common Fund’s Undiagnosed Diseases Network (UDN) is a research study to improve the level of diagnosis of rare and undiagnosed conditions. In the United States, it has been estimated that approximately 25 million Americans suffer from a rare disorder. The UDN established a nationwide network of clinicians and researchers who use both basic and clinical research to uncover the underlying disease mechanisms associated with these conditions.
Objectives:

  • Describe the approach and yield of different multi-omic technologies for diagnosing genetic disease
  • Identify how model organisms can be used to determine pathogenicity of variants of uncertain significance identified during genome sequencing.

2:25 – 2:35 pm Break

 

2:35 3:35 pm 

Risk-Based Prevention: Scaling Genomic
Applications for Large Populations
Alice Zhou, PhD
Chief Science Officer, Color Genomics
Genomic medicine promises to improve health outcomes through risk-based prevention and tailored treatment. However, genomic research has long focused on European ancestry populations, threatening the ability of genomic medicine to benefit diverse populations. One effort to include diverse populations in genomic medicine research is the All of Us Research Program – a national initiative aiming to enroll over one million individuals across the United States and return information to improve health. In order to successfully implement this program at scale, participant input was imperative. Results from comprehension testing of health reports to be returned to All of Us participants will be discussed in this session.
Objectives:

  • Describe approaches and considerations for building, scaling, and maintaining population genomics programs.
  • Specify results from comprehension testing of health reports for the All of Us Research Program.

3:35 – 3:45 pm Break

 

3:45 – 4:45 pm

Compounding Disparities in Genetic Testing
for Cancer Predisposition in South Texas
Gail Tomlinson, MD, PhD
Division Chief of Pediatric Hematology-Oncology, Mays Cancer Center
The historical lack of access to both genetic services and lack of research enrollment is intertwined with the lack of information which can be provided back to patients.  This session will present experience from a recent outreach project targeted at our underserved primarily Latinx population of South Texas. We will discuss means of successfully reaching individuals across a large geographic area of 22 counties including border and rural areas.  We provided patient education in a variety of community small group settings as well as physician offices, regional medical centers, and mammography centers.  Education focused on knowledge of explaining hallmarks of common hereditary cancers, and extended opportunities for individuals to self-refer or for medical professionals to refer patients for genetic risk assessment.  Of 1595 individuals identified as appropriate for genetic testing based on NCCN criteria, 1377 individuals completed genetic testing.  A significant finding was the increase in variants of uncertain significance (VUS) in the Hispanic populations which was twice the rate observed in non-Hispanic whites. We will discuss the impact or our outreach program, and the challenges of cancer genetic counseling in an underserve population.
Objectives:

  • Describe the genetic architecture observed in the Hispanic population of South Texas
  • Explain how Variants of Uncertain Certainty compound existing disparities in cancer screening and prevention.
  • Recognize instances in which an individual with an uncertain variant will need to undergo cancer screening as if they are high-risk

4:45 – 5:00 pm

Conference Wrap-Up / Closing Remarks
Debra Freedenberg, MD, PhD
Medical Director, Newborn Screening & Genetics
Texas Department of State Health Services