What are clinical genomics and precision medicine?
Precision medicine is an approach to disease prevention and treatment that is based on an individual’s genes, environment and lifestyle. Clinical genomics is a component of precision medicine that uses genome sequencing to inform patient diagnosis and care.
How are clinical genomics and precision medicine currently used to diagnose and treat disease?
Precision medicine is the basis for many disease treatments. Doctors often prescribe diet and exercise as treatment for diseases such as heart disease and diabetes, and advise patients with asthma to avoid environmental triggers. In addition, doctors can use gene testing to identify the most appropriate treatment for certain cancers.
How do we learn more about clinical genomics and precision medicine?
To continue to improve our knowledge of disease prevention and treatment, we need to study the impact of these different factors through research studies. These research studies examine patients’ genetics, lifestyle factors and environmental factors to discover what causes disease, what steps are needed for prevention and what treatments are most effective. With this knowledge, we can more precisely understand health and disease.
Physicians with disease-specific, clinical genomics and precision medicine expertise are found throughout various institutes, departments and centers at Cleveland Clinic.
Precision medicine is an approach to disease prevention and treatment that is based on an individual’s genes, environment and lifestyle.
Genetics is the study of inherited traits and the difference in those traits among individuals. Often we think of inherited traits such as hair or eye color, but inherited traits control more than just physical appearance; they also influence our health. To understand how genetics influences our health, it is important to understand some basic genetic terms.
Deoxyribonucleic acid, or DNA, stores all of our biological information. DNA is made up of four chemical bases: adenine (A), guanine (G), cytosine (C), and thymine (T). The order of these bases, or DNA sequence, determines our inherited traits.
Genes are made up of DNA and are the basic unit of heredity. Genes are instructions for making proteins, which are carry out many of the important jobs in our body.
Genetic variation are differences in DNA sequence among individuals. All individuals have DNA sequences that are 99.9% the same. The 0.1% of differences, genetic variation, accounts for the different traits we see among individuals. Genetic variation accounts for differences in physical traits as well as the differences in the risk to get certain diseases.
Diseases and health traits often run in families, such as heart disease, diabetes and cancer. A family history is a useful tool to help determine if you are at risk of disease that may run in your family. You can discuss your family history with your healthcare provider and they can help you determine your risk for certain diseases.
To construct your family history, you will need to gather the following information about you and your family members:
- Ethnicity, race or family origin
- Date of birth
- Health and disease history including age when disease was diagnosed
- If family member is deceased, the age at death and cause
- Environmental or lifestyle information
The environment where we live and work are important parts of a person’s health and well-being. Environmental factors that contribute to health and disease can include pollution, chemical exposure, sun exposure, and infectious diseases.
The final component of precision medicine is lifestyle, which includes personal choices such as diet, exercise, smoking, alcohol consumption and stress management. Lifestyle choices have a big impact on our health. We can improve our health through simple steps like eating a healthy diet, exercising more, and learning to manage stress.
- Learn more about genetics:
- Get started on your family history:
- Learn more about creating a healthy living environment:
- Learn more about healthy lifestyle:
Institutes and Centers
Our institutes and centers are working to improve treatment approaches to reduce the burden of disease through education, collaboration and innovation in precision medicine.
Genomic Medicine Institute
Genomic Medicine Institute is among the nation’s leading authorities in Genetic and Genomic Medicine and is recognized worldwide for excellence in patient care.
Pathology & Laboratory Medicine Institute
Pathology & Laboratory Medicine Institute provides crucial pathology and laboratory testing services to patients at Cleveland Clinic.
Lerner Research Institute
Lerner Research Institute home to all laboratory-based, translational and clinical research at Cleveland Clinic.
Center for Clinical Genomics
Center for Clinical Genomics (CCG) was established as a broad entity across the Cleveland Clinic to guide our clinical institutes through changing the landscape of precision medicine.
Programs and Collaborative Initiatives
Cleveland Clinic has established innovative programs and initiatives to advance the use and integration of clinical genomics and precision medicine at the bedside.
Clinical Genomics Liaison Program
Clinical Genomics Liaison Program supports the use of the latest next-generation sequencing tools for the diagnostic genetic workup of potential cardiovascular, neuromuscular and autoimmune diseases. Together, a team of clinicians, medical geneticists and genetic counselors review referral cases and decide which patients would benefit most from in-depth genomic analyses. The new data may then illuminate the cause of disease. This program will not only help those individual patients find answers to their health problems, but also add to our collective knowledge about the genetic causes of disease.
Genomics Informatics Core
Center for Clinical Genomics’ Genomics Informatics Core (GIC) is an accessible informatics resource that provides scientific and technical expertise to support clinical genomics and research genomics efforts. In particular, GIC helps clinicians and researchers by designing projects, by selecting appropriate analytical platforms, by retrieving and storing genomic data, and by providing genomic data quality controls and downstream data analysis. We also standardize how genomic data are accessed in the electronic health records for clinical decision-making. This allows clinicians to recognize the genetic susceptibility of their patients. Efforts are currently underway to develop processes and tools to help patients and clinicians navigate complex genomic information.
Genomics Education Initiative
Caregivers need up-to-date education on how to apply precision medicine into clinical practice. Clinical genomics has seen rapid advances in recent times. It is imperative that we develop unique learning materials that can take the latest knowledge and place it into context for our caregivers. Genomics Education Initiative developed an online learning experience that is tailored to individual specialties; this initiative also targets training programs and prepares students and trainees to use clinical genomics in their clinical practices.
Centers of Excellence in Research
Lerner Research Institute's Centers of Excellence in Research program was initiated in 2015 to speed the translation of lab discoveries into real benefits for patients. It brings together traditional lab scientists with front-line physicians to focus on the advances that are most needed by patients now. Initially funded internally, the long-term goal of this initiative is to involve supporters who are passionate about specific disease areas.
The Circulating Cell-free Genome Atlas Study (CCGA)
Sponsor: GRAIL, Inc.
Principal Investigators: Eric Klein, MD and Mikkael Sekeres, MD, MS
Cleveland Clinic is conducting a research study, Circulating Cell-free Genome Atlas (CCGA), to determine if a new blood test can be used to detect cancer earlier than standard screening tests. GRAIL, Inc. is sponsoring this study to use deep sequencing of circulating cell-free nucleic acid (cfNAs) to develop assays to detect cancer earlier. The purpose of this study is to collect biological samples from subjects with a diagnosis of cancer and from subjects who do not have a diagnosis of cancer, in order to develop tests for distinguishing cancer from non-cancer.
- For more information, go to: Cleveland Clinic - Cancer Clinical Trials or ClinicalTrials.gov - CCGA.
- If interested, contact the CCGA study team at 216.445.2164 or CCGAStudy@ccf.org.
- Circulating Cell-free DNA (ccfDNA): Liquid Biopsies of DRD2, TRAIL, and DR5 - Peter Anderson, MD, PhD.
- Clinical Outcome of Genetic Variants Related to Poor Bronchodilator Response in Asthma Patients (GACO) - Joe Zein, MD. *Recruiting
For more information contact the study team at 216.444.2949 or GACOStudy@ccf.org.
- Discovering Differences in Genomic Profiles of Patients with Advanced Stage Uterine Serious Carcinoma Stratified by Outcome - Haider Mahdi, MD.
- Genetic Changes Associated with Uveitis - Sunil Srivastava, MD.
- Genetic Risks of Recurrent Seizures in Epilepsy Patients - Lara Jehi, MD.
- Genomic Evaluation of Pre-Operative MRI Visible and Invisible Lesions in Prostate Cancer Patients Undergoing Radical Prostatectomy - Andrei Purysko, MD.
- Epigenetic signatures in older patients with acute myeloid leukemia - Hetty Carraway, MD.
- Establishing the Role of Epigenetics in the Biology of Psoriatic Arthritis - Elaine Husni, MD, MPH. *Recruiting
- Microbiome and Metabolome of Patients with Rectal Cancer - Matthew Kalady, MD. *Recruiting
- Mitral Valve Prolaspe Biorepository (MVP) - Brian Griffin, MD.
- Perioperative Precision Therapeutics in Major Abdominal Surgery – Conor Delaney, MD, PhD.