Valentine Group Health
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)
Background:
Dr. 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.
Dr. Reiff is currently a Senior Research Investigator at the Center for Integration of Genetic Healthcare Technologies at the University of Pennsylvania School of Medicine.
She is conducting research on genomic testing affects the families of children with autism. The study explores parents’ perspectives of the testing experience, the perceived value of test results, and the impact of uncertainty. This research is funded by the National Institutes of Health.
Surabhi 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.
Overview:
Genetic Testing is still a new field and many people do not know much about it until faced with a personal experience. This program is a general discussion of the basic elements of genetic testing and how it is opening up new answers to complex health issues.
- Increasingly, individuals and families are offered clinical diagnostic genetic testing, and it is important to have a basic understanding of genetics in order to understand the test results.
- There are 23 pairs of chromosomes, or 46 chromosomes, in the genome of each cell of our body. One member of each pair comes from the mother and one from the father. One of these pairs is the sex chromosomes: men have one X and one Y chromosome and women have two X chromosomes.
- Missing or extra pieces of chromosomes can cause medical, physical or developmental differences. Chromosomal Microarray Analysis (CMA) is a genome-wide technology that allows for identification of genomic alterations, such as deletions and duplications (missing or extra pieces of chromosomes). Since 2010, clinical guidelines recommend CMA as part of the evaluation of children with developmental delays and Autism Spectrum Disorders (ASDs).
