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Staff
Katie Lewis is a genetic counselor in the NHGRI Genomic Services Research Program (GSRP).
… on genetic counseling and patients who receive genetic testing. She is excited to be working with the patients and … Research Program (GSRP), genetic counseling, genetic testing … Katie Lewis is a genetic counselor in the NHGRI …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… cells lining the airways of lungs. Researchers are now testing aerosol delivery using nebulizers. But finding the … that the child will be a carrier. The purpose of carrier testing - a laboratory test done on a sample of blood or saliva - is to see if a couple is at risk for giving …
Educational Resources
Genomic variation refers to diversity in gene frequencies.
… in gene frequencies. … Genetic Variation, Genetic Testing, Genetic Counselor, Newborn Screening, Family Health …
Careers and Training
Frequently Asked Questions about the Genetic Counseling Training Program.
… University, Genetic Training, Newborn Screening, Genetic Testing … Frequently Asked Questions about the Genetic …
Health
Genomic medicine involves using genomic information as part of clinical care and the health outcomes and policy implications of that clinical use.
… are generating the evidence base, and designing and testing the implementation of genome sequencing as part of an … Medicine, Genomics In The Clinic, Genetics, Genetic Testing, Newborn Screening, Privacy In Genomics, Genomic …
Professional Development Programs
The JHU/NHGRI Genetic Counseling Training Program trains students to conduct research and provides clinical rotations to learn about genetic conditions.
… and behavioral issues surrounding the use of genetic testing. Students are exposed to cutting-edge molecular … Johns Hopkins in 1979.   GeneDX   Specializes in genetic testing for rare hereditary disorders. Their mission is to make clinical testing available to people with rare genetic conditions and …
News Release
Evaluating genetic features of inherited diseases by sequencing the genetic code helps with the cost and time challenges in medical practice.
… to generate a list of all possible causes and, through blood work and x-rays, weed out the wrong diagnoses until … ​ … Family history, Leslie Biesecker M.D., medical testing, genome sequencing and medical care, genomic …
About NHGRI
NHGRI is the driving force for advancing genomics research at the National Institutes of Health, the largest biomedical research agency in the world.
… Project, Dna Sequencing, Human Genome Sequencing, Genetic Testing … NHGRI is the driving force for advancing genomics …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… know their family history and have undergone genetic testing. The term “QT” refers to the segment of an … evidence for causing for this condition. … Genetic testing providers use research papers to determine which genes to include in their testing panels for diagnostic reporting to physicians. …
Educational Resources
A proband is an individual being studied or reported on.
… Defect, Inherited, Carrier, Carrier Screening, Genetic Testing, Genetic Counseling, Pedigree, Family History … A …