Healthy World, Healthy Nation, Healthy You

Genetic Testing for Autism: Hot or Not? What will genetic testing tell me about my child’s autism?

Marian Reiff, Ph.D. MSc
Senior Research Investigator
Penn Center for the Integration of Genetic Healthcare Technologies (Penn CIGHT)
Division of Translational Medicine and Human Genetics
University of Pennsylvania School of Medicine

Surabhi Mulchandani MSc MS CGC
Senior Genetic Counselor
Division of Genomic Diagnostics
Children’s Hospital of Philadelphia (CHOP)


Marian-ReiffDr. Marian Reiff has a background in public health, medical anthropology and social work.  She has a Master’s degree from the London School of Economics in Social Work and Social Policy, and has clinical experience as a social worker in medical and psychiatric settings.  She received a Ph.D. from Columbia University in Sociomedical Sciences, specializing in medical anthropology.

Dr. Reiff is a Senior Research Investigator in the Perelman School of Medicine, at the University of Pennsylvania, in the Division of Translational Medicine and Human Genetics, and the Department of Medical Ethics and Health Policy.  She is the Principal Investigator on a project that was funded by the National Institutes of Health studying how genomic testing affects the families of children with autism. The study also explores parents’ perspectives of the testing experience, the perceived value of test results, and the psychosocial implications of uncertain results.  The research uses in-depth interviews and surveys, and involves collaboration with an inter-disciplinary team of healthcare providers and researchers specializing in genetics, pediatrics, nursing and bioethics.  The findings will help to identify ways to improve the testing experience and the communication of test results, so that parents can better understand the information and manage the uncertainties created by genomic testing.

Dr. Reiff’s research investigates the cultural context of health and illness, and the connections between people’s beliefs and their health behaviors.  She has conducted and published research on patient-provider communication, attitudes and beliefs about genetics, stress-related illness, traumatic life events, women’s health, migration and health, and ethnomedicine.  Her work is published in academic and medical journals including the American Journal of Public Health, American Journal of Bioethics, Genetics in Medicine, Psychosomatic Medicine, and Human Organization. Her research has also been presented at professional meetings including the American Public Health Association, the American Anthropology Association, the American College of Medical Genetics, and the Greentree Conference on Autism.  She is a member of the Medical Care and Medical Ethics sections of the American Public Health Association, as well as the Public Health Genomics Forum.

Surabhi-MulchandaniSurabhi Mulchandani is a certified genetic counselor working within the Division of Genomic Diagnostics at the Children’s Hospital of Philadelphia since 2009. She has a Masters Degrees in Molecular and Human Genetics and another Masters Degree and board certification in Genetic Counseling. She has experience in interpreting more than 10,000 genetic test results from various genomic technologies. In her role as a genetic counselor she interpreted genetic test results and communicated them to health care providers and families. Early on her career she realized the need for genetics education in nurses, primary care physicians and non-genetics specialists. Ms Mulchandani has created various educational presentations and brochures and her role as an educator has evolved to where she coordinates the fellowship program for future laboratory directors at CHOP.

Her passion lies in bringing genetics to main stream medicine. With her background in genetics and clinical genetics, experience in interpreting whole genome analysis results and special interest in education, she strives to make genetic test results more helpful for patients and their families by simplifying test result format, creating consent forms that are simple enough to understand and make informed decisions. She has been helping physicians at CHOP to identify appropriate testing, eliminate un-necessary testing to help create financially responsible institution.


This show will discuss the process and role of genetic testing in the diagnosis of autism spectrum disorder and the implications of these test results for families of children with autism spectrum disorders (ASD). Different types of tests will be described. Topics include questions that need to be asked by parents, what they should expect in the process, and how they may use the results of the test.

3 Key Points:

  1. Genetic testing can provide important information on family risk factors.
  2. Some form of genetic testing will soon be the standard of care for patients who are being evaluated for autism spectrum disorder.
  3. Genomic test results can provide many benefits. However, they can also raise new questions and present challenges for families. Genetic counseling can help families to understand and cope with genetic test results.


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