Connecting genomic diagnosis to treatment, clinical action, and improved care
Our mission
Rx Genes is a specialized online resource developed by Dr. David Bick and Dr. Sarah Bick, with support from the Harriet Joyce Foundation, to help identify genetic diseases for which treatments may exist.
Its purpose is simple but important: to connect a gene or genetic diagnosis with possible therapeutic options. In practical terms, Rx Genes helps answer one of the most urgent questions in genetics:
“Now that we know the diagnosis, is there anything that can be done?”
This makes Rx Genes highly relevant to modern genomic medicine. Many genetic diseases are rare, complex, and dispersed across the scientific literature, making it difficult for clinicians, researchers, and health systems to quickly determine whether a condition may be treatable. Rx Genes helps organize this information in one accessible location.
The value of a diagnosis is greatest when it can be connected to meaningful clinical action and treatment.
Key information and clinical scope
For every entry, Rx Genes provides structured clinical data, including:
- Disease & Associated Genes: Primary condition and underlying genetic etiology.
- Treatment Availability: Reported therapeutic strategies, including approved treatments and active clinical trials.
- Intervention Type: Focus on therapies targeting underlying disease mechanisms rather than non-specific symptom management.
- Evidence Base: Direct citations and supporting scientific literature.
Who Rx Genes is designed for
Rx Genes is designed for physicians, molecular laboratory directors, and other health care providers seeking information on treating genetic disorders, supported by scientific literature. The site focuses on genetic disorders where intervention targets the mechanism of disease rather than alleviating symptoms.
Rx Genes serves as a practical bridge between genomic diagnosis and informed patient care, answering the question that matters most for families and clinicians: “What can we do for the patient?”
Furthermore, the American College of Medical Genetics and Genomics (ACMG) updated technical standards for clinical laboratories performing next-generation sequencing for constitutional variants state: “When reporting a gene associated with a treatable genetic disorder, the laboratory should consider the addition of a reference to the treatment in the report. This is currently recommended in cancer testing reports.”
Prevalence and disease frequency
It is estimated that 3.5-5.9% of the global population (263-446 million persons) has a rare disease at any point in time. 71.9% of rare diseases are genetic. With the advent of whole-genome sequencing and other genomic testing, the cause of many genetic disorders can be identified.
About the developers
David Bick, MD
David Bick, MD, is an internationally recognized clinical geneticist and a pioneer in genomic medicine. He serves as the Principal Clinician for the Newborn Genomes Programme’s Generation Study at Genomics England. This study is evaluating the use of whole-genome sequencing in newborns to identify serious, treatable genetic conditions before symptoms develop.
Dr. Bick received his medical degree from the George Washington University School of Medicine in 1981 and completed his residency in Pediatrics at Yale-New Haven Hospital. At Yale University School of Medicine, he completed a fellowship in Human Genetics and Pediatrics in 1986, followed by a postdoctoral research fellowship in Human Genetics in 1987. He is board certified in Pediatrics, Clinical Genetics, and Clinical Molecular Genetics.
Before joining Genomics England, Dr. Bick served as Chief Medical Officer and a Faculty Investigator at the HudsonAlpha Institute for Biotechnology. He was also Medical Director of the Smith Family Clinic for Genomic Medicine and Laboratory Director of the HudsonAlpha Clinical Services Laboratory.
Earlier in his career, Dr. Bick was a Professor in the Departments of Pediatrics and Obstetrics & Gynecology at the Medical College of Wisconsin. He served as Director of the Clinical Sequencing Laboratory, Director of the Advanced Genomics Laboratory at Children’s Hospital of Wisconsin, Medical Director of the Genetics Clinic at Children’s Hospital of Wisconsin, and Chief of the Division of Genetics in the Department of Pediatrics at the Medical College of Wisconsin. His laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole-genome sequencing as a clinical diagnostic test, and he established the first Genomic Medicine Clinic in the United States.
Dr. Bick has published extensively in clinical genetics and genomic medicine, with a particular focus on translating genomic diagnosis into clinically actionable information. He was the lead author of the 2021 publication “An online compendium of treatable genetic disorders,” which described a resource designed to help clinicians identify treatments for genetic diseases and established the scientific foundation for what has evolved into Rx-Genes. His work reflects a central principle of genomic medicine: the value of a diagnosis is greatest when it can be connected to meaningful clinical action and treatment.
Sarah Bick, MD
Sarah Bick is a pediatrician and metabolic geneticist who works to advance newborn screening and sequencing so that patients can receive a rapid, unambiguous molecular diagnosis and be connected to timely, targeted therapies. She is an Assistant Professor in the Division of Genetic Medicine at the University of Washington and sees patients in Biochemical Genetics at Seattle Children’s Hospital.
Dr. Bick earned her medical degree at the George Washington University School of Medicine and Health Sciences and completed her pediatric residency at Nemours/Alfred I. duPont Hospital for Children. She then trained in medical genetics through the Harvard Medical School Genetics Training Program, with clinical and research work at Boston Children’s Hospital and Massachusetts General Hospital for Children, and completed a fellowship in medical biochemical genetics at Children’s Hospital of Philadelphia.
Her research has included estimating the sensitivity of genomic newborn screening for treatable inherited metabolic diseases, and she has contributed to international efforts to develop more systematic approaches for selecting genes and conditions for genomic newborn screening programs. She serves on the Technical Advisory Committee that evaluates new conditions for addition to the Washington State newborn screening panel. She is also a co-investigator on several clinical trials of treatments for metabolic disease and works to bring clinical trials and novel therapeutics to her patients.
Dr. Bick’s combined expertise in clinical genetics, biochemical genetics, newborn screening research, and treatment-focused genomic medicine aligns directly with the mission of Rx Genes: ensuring that a genetic diagnosis leads not simply to an answer, but to clinical intervention.
Supported by
The Harriet Joyce Foundation supports practical tools and partnerships that help move rare disease care from diagnosis to treatment, with a particular focus on children, newborn screening, and genomic medicine.
