Genetic and Genomic Medicine offers services for individuals across all ages, including diagnostic evaluations, genetic counseling and treatment.
Learn more about the services we offer.
Genetic and Genomic Disorders
There are thousands of health conditions that may be caused by changes in our genes or genome. Many of these conditions are rare, each affecting under 1 in 10,000 individuals. They often present a challenge to diagnose the cause, sometimes taking many years, delaying access to care and treatment. However, combining the sheer number of different diseases (now estimated at more than 7,000 different conditions) means there are 30 million people in the US with a rare disease. More than half are children.
A genetic condition may be suspected based on an individual’s appearance, family history or screening tests. Our experienced team of licensed genetic counselors, nurse practitioners and board-certified clinical geneticists can evaluate individuals and families with a suspected genetic or genomic disorder. We combine clinical diagnostic skills with advanced laboratory tools to diagnose individuals and then provide treatment plans that include specific therapies, on-going surveillance and care coordination. We also provide genetics services to a number of multi-specialty clinics, providing evaluations for cardiovascular disease, complex epilepsy, intellectual disabilities, developmental delays, autism and more. .
We have on-site advanced genetic and genomic laboratory diagnostics in the Institute for Genomic Medicine. This unique resource allows more rapid and integrated diagnostics, leading to better patient care. We offer traditional karyotype analysis and newer SNP/oligonucleotide microarray testing for chromosome disorders and massively parallel sequencing to search the genome for disease causing variants in individual genes (such as “exome” sequencing).
Genetic Counseling Services
Genetic counselors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counseling. Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work. They provide information and support to individuals and families who have members with birth defects or genetic disorders and to families who may be at risk for a variety of inherited conditions.
Genetic counselors identify families at risk, investigate the problem, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available options with the family.
We offer visits with a genetic counselor alone when a medical assessment is not required or has already been performed.
Individuals with joint hypermobility and hypermobile Ehlers-Danlos syndrome are now directed to the new Hypermobility Clinic, which is operated by Rheumatology, for both diagnosis and treatment.
Frequently, individuals with these conditions are referred to genetics; however, a genetics evaluation is not required to diagnose them and no genetic test is available.
For more information regarding hypermobility, please see our blog post here.
For those interested in scheduling a genetic evaluation for these conditions, the Hypermobility Practitioner Questionnaire must be completed prior to an appointment being scheduled.
The Metabolic Clinic at Nationwide Children's Hospital is uniquely positioned to provide comprehensive diagnostic evaluations and long-term management for disorders of amino acid, carbohydrate and fatty acid metabolism among many other inborn errors of metabolism, such as PKU, MCAD, galactosemia, glycogen storage diseases, mucopolysaccharidoses and urea cycle defects.
Patients and families receive genetic counseling and coordinated care using a team approach. Three board-certified biochemical geneticists, two genetic counselors, two metabolic nurse practitioners and two metabolic dietitians with extensive experience in the treatment of metabolic disease staff our clinic.
We have on-site laboratory support for measuring amino acids, organic acids and acylcarnitines, using state-of-the-art technology such as tandem mass spectrometry, with test results interpreted by our biochemical geneticists. This ability allows us to more rapidly diagnose patients or alter disease management.
The State of Ohio Department of Health Newborn Screening Program now screens babies for more than 40 different inherited disorders and continues to add new disorders, including Krabbe disease, Pompe disease and Hurler syndrome. Many of these conditions are exceedingly rare and require specialized testing and restricted diets or medications that are usually outside the realm of expertise for a typical pediatric practice. Our metabolic team quickly evaluates babies with a positive newborn screen test to determine if a baby has the condition and is able to provide treatment for those confirmed to have the disorder.