About the PCPGM

The Partners HealthCare Center for Personalized Genetic Medicine (PCPGM) was launched in 2001 as the Harvard Medical School-Partners HealthCare Center for Genetics and Genomics. Its new name was adopted in late 2008. Its purposes from its founding have been to promote genetics and genomics in research and clinical medicine and to help realize the promise of personalized medicine by accelerating the integration of genetic knowledge into clinical care. PCPGM is accomplishing its mission by supporting and facilitating:

  • Important discoveries in the genomics era that will enable advancing the knowledge of how genetics affects human health and disease.
  • The transformation of the practice of medicine to a more genetics/genomics-based approach.
  • The education of practicing and future clinicians and scientists as well as patients and the general public through the development of educational programs and materials in genetics and genomics.
 

PCPGM's strategic approaches

The essential feature of the revolution in genetics and genomics has been an explosion in the amount of data available for use in translational research. Whole genome interrogation is now commonplace and it is not uncommon to see integration of transcriptomic and genomic data at the genome level in clinical studies. This massive data profusion has enhanced our ability to predict clinical phenotypes and to predict clinical outcomes on the basis of genome scale data. However, to be able to do this sort of prediction investigators need several tools.

First, they need a robust bioinformatics infrastructure with secure pipelines and robust algorithms for data cleaning and manipulation. Second, they need very strong bioinformatics platforms for data analysis and data management. Third, they need access to large numbers of very well phenotyped patients. Finally, they need access to the genomic platforms to create genomic scale data on these patients for prediction of clinical outcomes. PCPGM makes all of these resources available to Partners investigators through a highly developed infrastructure of five basic units:

1. Bioinformatics and Genetic Statistics

2. Infrastructure for Partners Researchers
  • Biorepository
  • Sequencing Core Laboratory
  • Genotyping Core Laboratory
  • Microarray Core Laboratory

3. Laboratory for Molecular Medicine

4. Genetics Enters Medicine
  • Using the i2b2 methodology the Center is developing the ability to provide data marts of Partners patients with de-identified phenotype and blood samples to be made available for specific projects.
5. Education

PCPGM News

The LMM is now offering Clinical Genome Sequencing Service. Check out the aricle in the Boston Globe. Other articles about us click here to read.

Dr. Robert Green speaks with NPR about new consumer genetic tests that claim to assess an athlete's performance potential.  Click here to listen to the story.

Genetic sequencing may save a boy's life in this NPR story featuring Dr. Howard Jacob.  Click here to listen to the story.  Dr. Jacob will also speak at PCPGM's Personalized Medicine Conference.

We have enhanced our advanced sequencing services with an Illumina HiSeq2000 and Illumina iScan technologies.

The LMM has launched the following expanded genetic tests:

  • OtoGenome Test™ for Hearing Loss (70 Genes)
  • Noonan Spectrum Panel now 12 Genes
  • PanCardiomyopathy Panel now 51 Genes

Sequencing interpretation success

Members of PCPGM’s Laboratory for Molecular Medicine and IT department were integral players on the team that won the first CLARITY (Children’s Leadership Award for the Reliable Interpretation and Appropriate Transmission of Your Genetic Information) contest sponsored by Children’s Hospital Boston. Teams of researchers from across the globe were invited to interpret the genomes and exomes of three families with children who suffer from undiagnosed diseases and to pinpoint the children’s genetic mutations and to explain them in a way that helped the children’s parents and physicians understand the disease better. Submissions were received from 23 teams; ten countries were represented in those teams.

The first prize of $15,000 was awarded to a team based in Brigham and Women’s Hospital’s Division of Clinical Genetics. Team members came from Brigham and Women’s Hospital, Partners HealthCare Center for Personalized Genetic Medicine (PCPGM), Massachusetts General Hospital, Brown University and Utrecht University. The team’s reports on its sequencing results were cited for their “analysis, clarity and utility” in their meaningfulness for the families and their children’s caregivers.

Full coverage of the CLARITY contest can be found at http://genes.childrenshospital.org