About Partners HealthCare Personalized Medicine
We are working to transform health care by accelerating the use of genetic and genomic information in the clinical setting to improve patient care.
Genome and Exome Sequencing
Genome and Exome Sequencing offers a unbiased look at patients’ genetic makeup that can provide them with information about the diseases they have, as well as the risks for other diseases. With a goal toward preventative medicine, we can better anticipate disease, ultimately guiding clinical care for patients and families.
Identifying Fabry Disease
Partners Personalized Medicine offers a pancardiomyopathy testing panel of 51 genes, including the alpha-galactosidase A (GLA) gene. Before, physicians rarely ordered testing for GLA gene, which is linked to Fabry Disease, an inherited disorder that affects the renal and/or cardiovascular systems. Today, the test can lead to early diagnosis and treatment.
OtoGenome™ Test for Hearing Loss
The Otogenome™ Test is an early intervention approach that sequences nearly 100 genes in children with hearing loss and related syndromes. By offering such a broad test, we may be able to identify at-risk patients with clinical problems that may have yet to manifest, such as vision loss or heart disease, and therefore seek early treatments, long before the onset of disease.
Genome Sequencing for Hearing Loss
Meet a family from New Hampshire and learn how genome sequencing by Partners HealthCare Personalized Medicine is helping them better understand hearing loss, which affects five out of 10 kids in the family. Heidi Rehm, director of the Laboratory for Molecular Medicine, explains why pinpointing the gene responsible for their hearing loss is helping scientists to better understand the condition.