Genetic testing can offer promise as well as frustration to those with rare diseases

Advances in genetic testing have provided new possibilities for diagnosing rare genetic diseases and also ushered in new dilemmas. Upstate geneticist Advances in genetic testing have provided new possibilities for diagnosing rare genetic diseases and also ushered in new dilemmas. Upstate geneticist Joan Pellegrino, MD, Joan Pellegrino, MD, explains that while genetic sequencing can help identify a patient‘s disease, that knowledge might offer little comfort if the disease has no known treatment or if the testing uncovers unrelated health problems. Pellegrino, director of Upstate‘s Inherited Metabolic Diseases Specialty Center, discusses these complexities and explains that while genetic sequencing can help identify a patient‘s disease, that knowledge might offer little comfort if the disease has no known treatment or if the testing uncovers unrelated health problems. Pellegrino, director of Upstate‘s Inherited Metabolic Diseases Specialty Center, discusses these complexities and reviews a local case reviews a local case that sheds light on the issues involved. that sheds light on the issues involved.