Category: newborn screening
Newborn screening (NBS) is the largest public health genetics program around the world. Each year in the United States, thousands of babies are saved from lifelong disability and death by timely diagnosis and treatment. While most newborns are screened with biochemical tests that use drops of blood from a heel prick, new advances in genome Read More >Posted on by
Can we use genetic screening of healthy populations to save lives and prevent disease? Join the conversation.
On January 30, 2017, CDC held a special workshop to discuss the role of public health in the implementation of genetic screening programs beyond the newborn period. The workshop brought together panelists from the worlds of medical genetics and public health practice, including cancer, birth defects, and laboratory science. Workshop presenters and a CDC panel discussed Read More >Posted on by
Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
Severe combined immune deficiency (SCID), also known as “bubble boy disease,” is a rare inherited disorder of the immune system that leads to recurrent severe infections. In the absence of effective treatment, SCID is usually fatal within the first 2 years of life. Treatment by hematopoietic cell transplantation can minimize the devastating effects of SCID, Read More >Posted on by
Recent advances in next generation sequencing (NGS) could potentially revolutionize newborn screening, the largest public health genetics program in the United States and around the world. Over the last five decades, newborn screening has grown from screening for one condition (phenylketonuria (PKU)) in one state, to nationwide screening for at least 31 severe but treatable Read More >Posted on by
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