La Salle University Digital Commons

Event Title

Chromosomal Microarray Testing in Children with Autism Spectrum Disorders: Clarifying Uncertainties and Improving Understanding

Presenter Information

Marian Reiff PhD, University of PennsylvaniaFollow
Surabhi Mulchandani M.Sc., M.S., Children’s Hospital of Philadelphia
Ellen Giarelli Ed.D., M.A., BSN, B.S., Drexel UniversityFollow

Event Website

http://www.med.upenn.edu/penncight/index.shtml

Start Date

3-5-2013 10:45 AM

End Date

3-5-2013 12:00 PM

Brief Biography

Dr Marian Reiff is a Senior Research Investigator at the University of Pennsylvania Center for the Integration of Genetic Healthcare Technologies. She has a PhD. in Sociomedical Sciences from Columbia University, and has trained in medical anthropology, public health, social work and social policy. She specializes in mixed-method research, investigating the cultural contexts of health and medicine. Since 2008 Dr. Reiff has been conducting research on the impact on families and healthcare providers of uncertainties surrounding the use of chromosomal microarray (CMA) testing in children. Her research included observations in pediatric genetic clinics, interviews with family members and health providers of children undergoing CMA testing, and a survey of health providers regarding the interpretation and communication of CMA results. She is currently principle investigator on a study funded by the National Institutes of Health (NIH) exploring the experiences of families having genome-wide testing for Autism Spectrum Disorders.

Description

This workshop addresses the utilization of chromosomal microarray (CMA) testing for children with Autism Spectrum Disorder (ASD). We focus on the impact of uncertainties, explore how families understand and make meaning of CMA results, and suggest ways to reduce uncertainties in order to improve understanding and utilization of test results.

Other Presenter Biographies

Surabhi Mulchandani, M.Sc., M.S., is a board certified genetic counselor in the Cytogenomics lab at the Children’s Hospital of Philadelphia. She received a Master’s Degree in Molecular and Human Genetics from India and a Master’s Degree in Genetic Counseling from California State University, Northridge. Surabhi interprets the complex data generated by genome wide array technology in context of patient’s clinical information, provides genetic education, counseling, and risk assessment and serves as a bridge between clinicians and the Cytogenomics lab.

Ellen Giarelli, Ed.D., M.A., BSN, B.S. is an advanced practice nurse with a Post-doctorate in Psychosocial Oncology and HIV/AIDS from the University of Pennsylvania. She is Associate Professor in the Doctoral Nursing Program at the College of Nursing and Health Professions at Drexel University. She has an adjunct appointment at the University of Pennsylvania, School of Nursing, and an external advisor and peer reviewer for the UPENN Center for the Integration of Genetic Health Technology (CIGHT). Dr. Giarelli has over 15 years experience as PI conducting research with patients, family members, and health care providers, including multiple intervention studies.