#331 Pediatric Mock Genetic Counseling Session: Autism and Developmental Delay

This is our third installment in our new Mock Genetic Counseling Session Series! In this episode, pediatric genetic counselor Miranda Di Biase and students Claire Zimlinghaus and Joy Lin perform a mock pediatric genetic counseling session. This session’s indication is one of the most common in pediatric genetics: autism.

This session was recorded in person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction.

We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service.

The Actors:

Miranda Di Biase, MS, CGC, is a Pediatric Genetic Counselor at the Children's Hospital at Montefiore Einstein. Her clinical focus centers on counseling families on genetic testing options to find a potential genetic etiology for their child's medical concerns. Di Biase also specializes in pediatric cancer predisposition syndromes and Williams syndrome. Di Biase's research focuses on genome sequencing. She participated in the NYCKidSeq research study, which performed whole genome sequencing for patients with neurological, immune and/or cardiac health problems. Her work has been shared through numerous scientific publications and abstracts.

After obtaining her Bachelor of Science from York University in Toronto, Canada, Di Biase moved to New York to earn her Master of Human Genetics at Sarah Lawrence College. Di Biase is certified by the American Board of Genetic Counseling and was nominated for the prestigious Heart of Genetic Counseling award in 2021 presented by the National Society of Genetic Counselors and Invitae. This award honors genetic counselors who have made a difference in the lives of their patients by using the combination of human excellence and human compassion that defines the profession.

Claire Zimlinghaus is a second year graduate student at the Sarah Lawrence College Joan H. Marks Human Genetics program. She received a Bachelor's degree in Biological Sciences from the University of Pittsburgh in 2023. Claire has had a passion for the science of genetics since her youth, and hopes to be a source of information and empathy for her patients as a genetic counselor.

Joy Lin is currently a second year genetic counseling student in the Joan H. Marks Graduate Program in Human Genetics at Sarah Lawrence College. She received her Bachelor of Science in Biochemistry and Psychology from Stony Brook University. She is passionate about genetics and hopes to provide meaningful care to individuals and families as a genetic counselor.

Pediatric Mock Session Case Information

• Case Details: The patient is a 4 year old male with autism and global developmental delay who presented to genetics with his mother and sister-in-law.

• Patient Name: John

• Parent Name: Claire

• Sister-in-law Name: Joy

• Medical History:

• • Pregnancy:
    • Uncomplicated
    • Non-invasive prenatal screening: low risk for trisomies
    • Ultrasounds were normal
    • Full term via NSVD
    • Exposures: none
  • Developmental milestones: delayed
    • Sitting: 10 months
    • Walking: 2 years
    • Talking: 3 years
      • Can speak in 2-3 word sentences
  • Education
    • Preschool
  • Therapies
    • OT (2x weekly, 30 min)
    • ST (2x weekly, 30 min)
    • PT (2x weekly, 30 min)
  • Review of Systems
    • ENT - ear infections (3x)
    • Normal physical exam
  • Specialists seen:
    • Neurologist, Audiologist, Developmental Pediatrician

• Family History:

• • Ancestry: Irish and German
  • No consanguinity, birth defects, genetic conditions, multiple miscarriages or infant deaths
  • Cousin with autism

Pediatric Mock Session Outline

• Contracting:

• • Greetings and introductions
  • Reason for referral to genetic counseling
  • Overview of session
  • Address patient questions or concerns

• Medical Intake:

• • Pregnancy history, developmental milestones, review of systems, and other relevant medical history

• Family History:

• • Construct a pedigree
  • Consanguinity, ID/DD/autism, birth defects, genetic conditions, multiple miscarriages, infant deaths, etc.

• Physical Examination

• • Done by the geneticist

• Patient Education

• • Overview of genetics
  • Causes of autism spectrum disorder
    • Discussion of multifactorial causes, chromosomal abnormalities, single-gene disorders
  • Discuss appropriate testing options:
    • Chromosomal microarray + Fragile X syndrome testing
    • Whole exome sequencing (WES)
    • Whole genome sequencing if indicated
  • Sample collections blood versus saliva
  • Possible results
    • Negative, Positive, Variant of Uncertain Significance
    • Incidental findings
    • Secondary findings can be reported for ES and GS
  • Turnaround time
  • Cost and insurance coverage
  • Shared decision-making
  • Informed consent

• Recommendations and next steps

• • Summary of the session
  • Follow up with genetic counseling to discuss test results

• Final questions and conclusion of session

Stay tuned for the continuation of our mock genetic counseling session series inspired by a cumulation of cases.

Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com.

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