Student Scholarly Projects

Class of 2021

Aimee Allworth

The Ethical, Legal, and Social Implications of Cascade Genetic Testing

  • Aim: undertake a formal bioethical analysis of existing literature on cascade genetic testing and propose an ethical framework that may guide this practice moving forward

Gauri Anand

Parents’ Conceptualization of Gender after Prenatal Sex Determination Using NIPT or Ultrasound

  • Aim: explore whether and why parents prefer to find out the sex of their fetus and how this impacts their conceptualization of their child’s future, their consumption, and their interactions with and about their fetus

Dana Becker

Size of Omphalocele as a Predictor of Genetic Disease

  • Aim: utilize prenatal and postnatal omphalocele ratios obtained using sonography and the corresponding genetic diagnosis to determine whether the size of an omphalocele itself can act as a predictor of genetic disease

Anna Karlsen

Impact of Receipt of Genetic Research Results Related to an Autism Diagnosis on Parents’ Identity

  • Aim: explore what individuals affected by autism consciously understand, perceive, and desire related to genomic testing and how this information could impact a person subconsciously – what is the psychological impact, if any, of learning a genetic cause for autism on the family and the individual with autism?

Denise Ma

Assessment of Healthcare and Non-Healthcare Providers’ Practices on Educating Families about the Genetics of Autism

  • Aim: assess parents’ interests and providers’ experience and practice in providing education about the genetics of autism, regardless of choices about pursuing genetic testing

Bree Martin

Comparing the Frequency of Variants of Unknown Significance (VUS) between Ethnic Groups in an Epilepsy Cohort ​

  • Aim: explore the frequency of VUS results for Europeans and non-Europeans in clinical epilepsy genetic testing, examining potential health disparities that may result from differing access to clinical trial participation, treatment/medical management, and prognostic determinations

Cecilia Miguel

Receiving Cancer Susceptibility Genetic Testing Results: Desires of Mothers and their Adolescent Daughters 

  • Aim: evaluate opinions held by mothers and daughters about goals and approaches of genetic counseling in the setting of returning adult-onset cancer susceptibility genetic testing results in both clinical and research settings

Maya Rawal

Predictive Neurodegenerative Testing in the Prenatal Setting

  • Aim: investigate current policies and practices, or lack thereof, surrounding the issue of prenatal testing for adult-onset neurodegenerative disease

Sivan Reytan

Gene Discovery Using Next-Generation Sequencing in Patients with Renal Malformations

  • Aim: utilize next-generation sequencing technologies and other molecular testing platforms to broaden our understanding about potential genes and pathways important for renal system development and function

Connolly Steigerwald

Psychological Impact of Pre-Symptomatic Genetic Testing on Individuals at Risk for Developing Amyotrophic Lateral Sclerosis (ALS)

  • Aim: characterize the unique psychological experiences of those who have learned their genetic testing results and those who did not pursue testing but remain at risk

Alexandra Tinfow

What's Next? Practices around Follow-Up for Clients Receiving a Positive or Inconclusive NIPT Result During Pregnancy

  • Aim: provide guidance for follow-up of positive and inconclusive NIPT results, aimed at reducing the need for multiple procedures, unwarranted expense, and unnecessary wait times to receive a definitive result

Sarah Wang

Creating a Framework for Implementation of Genetic Counseling Services within Free Clinics

  • Aim: increase access to genetic counseling and genetic testing for low income populations and those who are un-/underinsured to assist with reducing health disparities