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At Yale New Haven Children's Hospital, highly trained and board-certified genetics physicians provide diagnosis, evaluation, counseling and management of genetic and congenital conditions. For critically ill patients with an unknown diagnosis, we have the unique capability to perform rapid whole genome sequencing (rWGS) to find the genetic cause of an illness and in turn develop an effective treatment. The team includes genetic counselors, advanced practice nurses, a genetic nutritionist and a newborn screening nurse offering a wide range of genetic services, including care of patients with neuro-developmental conditions, congenital heart conditions, genetic syndrome, cancer, prenatal and newborn genetic screening.

We are proud to be a National Organization for Rare Disorders (NORD®) Rare Disease Center of Excellence, part of a national network of academic medical centers dedicated to diagnosing, treating and researching all rare diseases. People living with rare diseases face many challenges in finding a diagnosis and accessing quality clinical care and this provides an opportunity for our entire community to improve access and care to help people with rare diseases. 

Genetic counseling is available to patients and their families once a diagnosis is identified. Counseling focuses on the patient’s condition and its impact on the family and family planning. Counseling also includes psycho-social issues, available support services, and interpretation and direction for complex genetic or genomic laboratory testing.

Rapid Whole Genome Sequencing (rWGS)

Yale New Haven Children's Hospital is one of only eight hospitals in the nation offering rapid whole genome sequencing to patients who have unexplained, complex or severe health issues. Rapid whole genome sequencing is a genetic test used to identify abnormalities that may link to a disease. Test results are available within a few days, compared to typical sequencing of four weeks through other hospitals or facilities. Our capability to sequence DNA in this shorter time-frame allows physicians to quickly develop and implement a treatment plan that may have a profound impact on a child's outcome. 

Pediatric Genomics Discovery Program

The Pediatric Genomics Discovery Program is a collaborative between Yale New Haven Children's Hospital and Yale Medicine where by researchers help families find diagnoses for children with previously undiagnosed health conditions through genetic (DNA) sequencing. The Pediatric Genomics Discovery Program team works with families to explore the genetic basis of a child’s health problems. The Program’s goal is to provide a diagnosis whenever possible, help families understand what it means to their child’s health and provide guidance for the future.

Great strides have been made in the field of human genomics, and every day more is discovered. Not only does the team diagnose known genetic diseases, the program is also highly focused on identifying new, previously unknown genetic conditions and shares these new findings with families in the program as they develop.

Learn more about the Pediatric Genomics Discovery Program.