The starting point for an interaction between a patient and a clinician is almost always a set of clinical facts - for instance, a child with wheezing or an adult with a cough. From the set of clinical facts at hand the clinician puts together a plan for how to approach "the problem" that has generated the encounter.

Using clinical facts as the basis for understanding "the problem" to be solved can be referred to as "phenotype-first" medicine. Phenotype-first medicine is the standard way in which the practice of medicine has traditionally proceeded. In fact, phenotype-first medicine has been the routine approach applied to genetics in medicine. For instance, when a woman with a strong family history of breast or ovarian cancer is evaluated, and the potential use of DNA sequencing of the BRCA1 and BRCA2 genes is considered, it is the clinical fact that drives the decision of whether or not to obtain that genomic sequence information.

At Geisinger, a GenomeFIRST  approach to medicine has been launched to provide options for turning this process around by building systems that can be activated before "the problem" arises. This is care that is based on an individual's DNA sequence and it will be applied in some important settings (for example, in addressing some cancer risks) without waiting for the emergence of a clinical phenotype. Our GenomeFIRST Medicine program takes a comprehensive approach to care that includes:

1. Genomic screening.
2. Interpretation of DNA sequence variants.
3. Communication of interpretations to patients and providers.
4. Support of patients and providers in the process of translating and clinically managing these results.

This 21st Century medicine approach takes advantage of new DNA-sequencing technologies that are making DNA testing more accurate, less expensive and faster. We believe that this change will quickly lead us to a time when many (or perhaps all) of us will have our genome (i.e., our entire genetic code) sequenced and available to inform our care.

GenomeFIRST Medicine is rooted in a learning healthcare system approach (as defined by the Institute of Medicine) that is focused on "...the collaborative healthcare choices of each patient and provider; to drive the process of discovery as a natural outgrowth of patient care; and to ensure innovation, quality, safety and value in healthcare."

At Geisinger, we strongly believe that genome sequencing will become more and more integrated into routine care, and that GenomeFIRST Medicine will drive medicine toward early diagnoses and disease prevention for many of our patients.

Training Modules

Geisinger’s team has created condition-specific educational modules for non-genomic providers about genomic findings and how to communicate the findings to patients. CME credits are available via the following link(s). Please note that you will need to create an account before accessing materials.

• Hereditary Breast and Ovarian Cancer Syndrome and Pathogenic Germline Variants in BRCA1 or BRCA2 View Training
• Lynch Syndrome and Pathogenic Variants in MLH1, MSH2, MSH6, or PMS2 View Training
• Li-Fraumeni Syndrome (LFS) and Pathogenic Variants in TP53 View Training
• Familial Hypercholesterolemia and Pathogenic Variants in LDLR, APOB or PCSK9 View Training
• Malignant Hyperthermia Susceptibility and Pathogenic Variants in RYR1 or CACNA1S View Training
• Marfan Syndrome and Pathogenic Variants in FBN1 View Training