What We Do

Working Together to Transform Care

The genome of every individual holds critical information in the form of genetic variants that can help clinicians more precisely diagnose, treat, predict, and even prevent disease. With advances in genome sequencing and translation—now becoming more economically accessible for clinical use—the mysteries of the genome are finally being unlocked.

Today, Partners Personalized Medicine offers over 100 genetic tests that help with the detection of a range of diseases and syndromes from cardiomyopathies and noonan syndrome to pulmonary conditions, connective tissue disorders and hearing loss.  We also offer whole genome and exome sequencing to help detect disease risks and improve the accuracy of diagnoses.  Improvements in detection can lead to more targeted, effective, and sometimes preventative care which means improved quality at a lower cost, and most importantly, better outcomes for patients.

Personalized genetic medicine, the tailoring of prevention and treatment modalities to an individual’s unique genetic make-up or to how a particular disease or syndrome is expressed, is no longer just a promise. While the approach is beginning to revolutionize today’s medical practice and optimize patient care, Partners HealthCare Personalized Medicine (formerly known as the Partners HealthCare Center for Personalized Genetic Medicine or PCPGM) has a long history of being at the forefront of this field.   

A reality for all patients

Since its founding in 2001, the mission of Partners Personalized Medicine has been to promote genetics and genomics in research and medicine and to help realize the promise of personalized genetic medicine by accelerating the integration of genetic knowledge into clinical care. Today, that promise is becoming a reality. We provide personalized medicine services to more than 4,000 patients and their physicians each year through over 100 targeted genetic tests, whole genome sequencing, and now, whole exome sequencing. 

By combining bench research with technology, Partners Personalized Medicine is working to improve the care of patients and the implementation of personalized genetic medicine throughout the world.  Our goal is to improve the quality and cost of care and to make the promise of personalized genetic medicine a reality for all patients.  For those suffering from heart, neurological, pulmonary and other diseases, Partners Personalized Medicine plays a critical role in:

• Building new capabilities for more precise diagnoses;
• Developing safe and effective targeted therapies;
• Enhancing our understanding of the origin and progression of diseases;
• Developing new means of prevention for these diseases.
• Uncovering and pinpointing inherited disease

For example, today we offer tests that help detect underlying and presymptomatic heart conditions, such as cardiomyopathy in children and adults, that can be managed if detected. And, early detection through testing for some children with hearing loss can help tailor the proper medical care and guide their health and personal decisions over their lifetime as  10-20% of children with hearing loss will develop additional medical issues later in life (some examples are renal failure, infertility, hypothyroidism).. 

World-class capabilities with a focus on our clients

Partners Personalized Medicine offers a cohesive suite of services for personalized medicine. We take a collaborative, consultative approach with our clients, guiding them every step of the way whether that is acquiring samples, testing samples, building research projects, or educating students.

There are many ways Partners Personalized Medicine can support you with your work:

• Clinical testing of your patients;
• Perform clinical assay of your research samples;
• Request Biobank samples;
• Train in our laboratories; and/or
• Establish collaborations with us. 

In whatever way is most meaningful to you, Partners Personalized Medicine is here to assist. Whether that’s helping investigators to reach discoveries or working with physicians to improve the quality of care provided to patients.  We will be with you every step of the way.

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