Department of Genomic Health
The Department of Genomic Health aims to make better health easier for those in the communities we serve. Our genetic information can help expose risks for a wide range of major health problems, like cancer and heart disease. Knowing about these risks – and taking appropriate action – can help us prevent disease and improve our overall health.
Founded in 2012, the Department of Genomic Health has greatly impacted our Geisinger community, and the scientific community at-large by:
- Leveraging the MyCode Community Health Initiative to screen individuals for genetic risk for cancer, heart disease and other conditions
- Using genome sequencing to shorten diagnostic odysseys in children
- Providing genetic counseling in cancer, heart and other specialty areas
- Developing innovations to better identify individuals and families at risk for hereditary conditions
- Applying advanced laboratory research techniques to investigate fundamental mechanisms of human disease
Department of Genomic Health
Henry Hood Center for Health Research
100 N. Academy Ave.
Danville, PA 17822
Geisinger Precision Health Center
190 Welles St. Suite 128
Forty Fort, PA 18704
We’re committed to conducting research that engages a wide range of patient and clinician participants while leveraging our strengths in implementation science, molecular and functional genomics, bioinformatics, behavioral science and outcomes measurement. The research we perform directly informs clinical care and aligns with Geisinger’s emphasis on innovative care that meets patients where they are.
Managing our health and that of our families involves figuring out how to fit our genomic information into the rest of our lives — other health issues we face, where and how we live, and what motivates us to care for ourselves and our families. And we’re devoted to helping patients and families find the best way to fit genetic information into their care.
To reach our goal, we’ll enhance our partnerships with patients, families and colleagues at Geisinger. And, we’ll partner with scientists at other institutions to ensure that the evidence generated through this innovative care can lead to better health for people everywhere.
Along the way, we’ll continue to foster advanced skills and expertise among our team of clinicians and scientists. Whether you’re a patient who’s worried about a health problem running in your family, a clinician sharing care of a patient with genetic risk, or a scientist keen to collaborate on advancing genomic health, we’re looking forward to working with you to help make better health easier for everyone.
Learn more about the MyCode Genomic Screening and Counseling Program.
ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to determining which genetic variants are most relevant to patient care by harnessing both research data and the data from the hundreds of thousands of clinical genetics tests being performed each year, as well as supporting expert curation of these data.
In 2013, the National Human Genome Research Institute (NHGRI), along with the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Cancer Institute (NCI), awarded over $25 million to support a consortium of research groups to design and implement a framework for evaluating which variants play a role in disease and those that are relevant to patient care.
Primary Funding Sources
ClinGen is primarily funded by the National Human Genome Research Institute (NHGRI), through the following three grants:
- U24 HG009649
- U24 HG006834
- U24 HG009650
ClinGen receives support from the National Cancer Institute (NCI) through the following contract:
ClinGen also receives funding through the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).
ClinVar is supported by the Intramural Research Program of the NIH, National Library of Medicine.
- Adam Buchanan, MS, MPH, CGC
- Christa Lese Martin, PhD, FACMG
- Erin Rooney Riggs, MS, CGC
- Juliann Savatt, MS, CGC
- Marc S. Williams, MD
Genetic counselors are board certified and licensed healthcare professionals that have advanced training in medical genetics and counseling. Their training supports patients and families seeking information about inherited conditions that might affect them. Genetic counselors are experts in analyzing personal and family histories to select the most appropriate genetic test and then interpret the results for discussion with the patient and their family.
You may be interested in or referred for genetic counseling services at Geisinger. You can expect the genetic counselor to collect and discuss family history and genetic risks during your appointment. Genetic testing may or may not be ordered, and your genetic counselor will discuss all of the benefits and limitations of testing. You will also learn about what genetic testing means for you and your family members.
Geisinger’s Genetic Counseling Professional Council (GCPC)
Geisinger’s Genetic Counseling Professional Council (GCPC) is a chartered group with the purpose of fostering excellence in education, professional development, recruitment and retention of genetic counselors and genetic counseling assistance. The GCPC supports genetic professionals in both clinical and research activities. This council is comprised of two co-chairs, a genetic counselor leader and a physician leader, along with up to 16 members representing the genetic counseling profession from across the Geisinger footprint.”
- Peer to Peer
- Genetic Testing Collaborate Committee
- Genetic Counseling Assistant Program
Clinical Practice Areas/Clinical Subspecialties
- Maternal Fetal Medicine and Reproductive Endocrinology
- Medical Genetics
- Cardiovascular Genetics
- Autism and Developmental Medicine
The application of next-generation sequencing and other genomic technologies has generated enormous excitement around the potential to use genomic information to guide healthcare at the individual and population levels. Interpreting this genomic data presents many challenges, however, and is a rate-limiting step in using it effectively to promote health. A major goal of the Department is to elucidate the role of genetic variation in health and disease to better inform the use of genomic data.
We leverage Geisinger's unique resources for this work, in particular exome sequence and genotype data from the MyCode Community Health Initiative and 20-plus years of structured health and disease data collected in Geisinger's electronic health records. This work requires a multi-disciplinary approach and expertise in variant annotation/classification, development and validation of electronic health record-derived phenotypes, and statistical analysis.
We use advanced analytics and machine learning to model diverse data types, including structured diagnosis, procedure, medication, and clinical lab data, as well as radiologic images, clinic notes, and patient-reported outcomes to create validated phenotypes for genetic studies. This work requires close collaboration with experts and clinician-investigators at Geisinger and other research organization across the world.
Our research falls into two broad categories:
- Determine the prevalence and penetrance of variants known or suspected to alter disease risk: Our data resources allow us to confirm or challenge known or suspected genetic associations and provide better estimates of population level variant prevalence, disease penetrance, and phenotype expression than is usually possible with disease-specific or family-based cohorts. This information is needed to ensure optimal use of genetic information in clinical care and decision-making.
- Discovery of Novel Genetic Associations: The goal of this work is to identify previously unknown genetic risk factors. This can uncover new understanding of the underlying biological basis of diseases, and in some cases reveal targets for innovative therapies.
Areas of Focus & Achievements
Our research spans multiple areas, including obesity and metabolic disease, vascular disease, kidney disease, cancer, and others. Specific examples are:
Chronic liver disease: We identified genetic variants that alter the risk of liver disease. Critically, this included a variant in the gene HSD17B13 that mitigates development of chronic liver disease. Based on this genetic discovery, therapies that target HSD17B13 are currently in Phase II clinical trials for treatment of non-alcoholic steatohepatitis and liver fibrosis. This example highlights our comprehensive approach from bench discoveries to bedside treatments.
Vascular disease: We are studying the genetic basis of vascular disease, leading to crucial insights into genes that influence the development of abdominal and thoracic aortic aneurysms and other vascular diseases. This includes identification or rare variants that cause monogenic forms of disease and development of genetic risk scores based on panels of common genetic variants.
Cardiac arrhythmia: Our research has led to a deeper understanding of the genetic basis of arrhythmias, including congenital disorders like long QT syndrome.
Metabolic diseases (including obesity, Type 1 and type 2 diabetes, and monogenic diabetes): We are identifying genetic risk factors that underly these conditions; these findings contribute to better understanding of the prevalence and disease penetrance of clinically relevant genetic variants and the development of new tools to estimate disease risk and improve disease diagnosis and treatment.
Kidney disorders: Our work in this area has resulted in a deeper understanding of the genetic factors that influence kidney disease, helping us to better understand disease prevalence and penetrance and guide patient management.
Cancer: The main goal of our work in this area is to evaluate and quantify the association of known or suspected cancer risk genes with various cancers to provide better estimates of the prevalence and penetrance of variants in these genes.
Through these and other investigations, we produce knowledge that provides avenues for targeted disease surveillance and personalized therapies and aligns with our commitment to translating genomic discoveries into real-world clinical benefits.
Multi-cancer early detection (MCED) testing is a simple blood test that has the potential to find more than one type of cancer (American Cancer Society). A blood sample is tested for certain pieces of DNA. DNA in the blood could indicate whether a cancer is present. Additional testing would need to happen to locate where the cancer is in the body. MCED tests are still being studied, but have the potential to prevent cancer deaths.
Geisinger’s Department of Genomic Health is studying MCED tests and has an established Multi-Cancer Screening Research Program under the direction of Adam Buchanan, MS, MPH, CGC and Ashley Honushefsky, MS, MBA.
The program, which is housed in Geisinger Bloomsburg Hospital, provides a mobile team that seeks to improve access to trials by traveling throughout the Geisinger service area and meeting potential participants in their communities.
The team, which is responsible for conducting ongoing and upcoming MCED trials, includes a program manager, project managers responsible for recruitment, data collection, data transfer, and regulatory functions, as well as research assistants and phlebotomists. The team also works closely with data analysts in Geisinger’s Phenomics and Clinical Data Analytics Core, which manages the research data warehouse that pulls data from the EMR, insurance claims, imaging testing, tumor registry and other relevant clinical sources. The Multi-Cancer Screening Research Program also collaborates with Geisinger Cancer Institute research staff.
Detecting Cancers Earlier Through Elective Mutation-Based Blood Collection and Testing (DETECT) is a research study that is trying to understand how well a blood test works for finding cancer. DETECT uses a research marker panel blood test to look for tumor DNA by checking for 15 genes and look for abnormally high levels of 10 protein markers.
The Sanderson Study is a multi-site study sponsored by Freenome for the development of a multiomics blood test for cancer screening. The Freenome platform combines tumor and non-tumor signals with machine learning to detect cancers in early stages using a standard blood draw.
Geisinger began enrolling newly diagnosed cancer and non-cancer (control) participants for this study in April 2023, and enrollment is expected to continue until September 2024. Enrollment into the Sanderson Study at Geisinger is by invitation only. More information about the overall study can be found on the Freenome website.
Collaborative Approach to Reach Everyone with Familial Hypercholesterolemia: CARE-FH
Familial hypercholesterolemia (FH) is a common genetic disorder (prevalence 1 in 250) that requires lifelong sustained medical care. Evidence-based guidelines for screening and treatment for FH exist. These include universal screening of children ages 9 to 11, of adolescents ages 18 to 20, and of adults ages 40 and above; approved diagnostic tools including lipid panels and genetic testing; and recommendations for initiation of lipid lowering medication.
FH diagnosis is currently made too late in life, often after a premature heart attack has occurred creating a care gap that results in excess cardiovascular morbidity and mortality.
Diagnosing FH in the primary care setting would optimize treatment for individuals with FH and close this care gap. Utilizing tools from implementation science and human centered design, and by considering uptake, acceptability, and sustainability of programs related to FH care should improve earlier diagnosis. Implementation strategies that include insights from patients, clinicians, and healthcare systems are necessary.
Our long-term goal is to create an effective FH diagnosis program that is practical and sustainable in the real-world setting. The main objective of this project is to determine the uptake of an FH diagnosis program integrated into primary care practices to promote early identification of adult and pediatric patients that is generalizable to other healthcare settings.
Our research question is, does using a multi-level implementation strategy package, designed to address the specific needs of patients, clinicians, and healthcare systems, improve the diagnosis and activation of care management for individuals with FH. Our specific aims are to: 1) to design a clinical trial to assess multi-level implementation strategies for improving FH diagnosis in an integrated health system, 2) compare FH diagnosis rates among primary care clinicians who receive the implementation strategy package versus those who do not, 3) to measure implementation success of an organized FH diagnosis program, and 4) to explore patient-related service and health outcomes related to an FH diagnosis program.
- NIH NHLBI R61/R33 HL161775
- R61 is a 1-year planning
- R33 is a 4-year clinical trial
Join Our Team
Geisinger research pursues an ambitious agenda with the long-term goal of directly impacting the health of our patients, our community and healthcare as a whole. A unique aspect of Geisinger research is that, unlike traditional academic approaches, scientists are integrally connected to the clinical enterprise. This facilitates interdisciplinary team-based collaborations to address clinically relevant questions.
Interested in joining our team? Email Cara McCormick, MPH, Administrative Director of Geisinger’s Department of Genomic Health at email@example.com.