The Division for Clinical Genetic Services
This division coordinates a statewide network of clinical genetic services at three centers, thirteen (13) general genetics outreach clinics, six sickle cell disease outreach clinics, and two hemophilia outreach clinics. Our private sector partners provide these clinics through a cooperative funding agreement. Tay Sachs Screening is available through Johns Hopkins Hospital and the University of Maryland. Case management for hemophilia patients is available through the comprehensive hemophilia treatment program, a cooperative project with Johns Hopkins and St. Agnes Hospitals.
The clinical services division each year serves approximately 8,000 people. All Maryland residents are eligible for service.
This division includes the Metabolic Nutrition Follow-up Program, which follows patients with genetic metabolic disorders like PKU or MSUD and provides case management and dietary therapy. The Hemoglobin Disorders Program follows children with sickle cell disease and other hemoglobin disorders and provides case management, home visiting, annual pediatric hematology evaluation, genetic counseling, parent education, support groups and summer camp.
This Division also includes the Birth Defects Reporting and Information System (BDRIS), which collects data on the number of babies born with any of twelve common birth defects and provides information on the defects and services available.
Genetic Screening and Counseling
The Genetics program also provides the following types of screening:
This program follows patients with genetic metabolic disorders like PKU or MSUD, providing long term case management and dietary therapy. These patients cannot eat regular food and need a special diet consisting of special formulas and specially modified foods. All patients with these disorders residing in Maryland are eligible for service - there is no charge for the nutritionists or for case management. The services of the Metabolic disease specialists are charged on the sliding fee scale with all types of third party payment accepted. No patient is refused services for inability to pay. Blood metabolite levels are run without charge by the Laboratories Administration. Special formulas are available from Medical Assistance
for families meeting the financial eligibility requirements of those programs. State law mandates that insurers cover both the special formulas and the special low protein modified food products. Unfortunately, insurance provided through companies that "self insure" is exempt from state laws and regulations and may not cover these products.
This program follows children with Sickle Cell Disease and other hemoglobin disorders providing long term case management, home visiting, annual pediatric hematology evaluations, genetic counseling, parent education, support groups and summer camp. We work with several voluntary groups. All children with sickle cell disease under three years of age residing in Maryland are eligible for intensive case management. Older children are at lower risk and receive less intense management. There is no charge for home visits, case management, parent education, support group activities or summer camp. Clinical hematology services and genetic counseling are charged on the sliding fee scale with all types of third party payment accepted and no patient is refused service for inability pay.
Maryland law established the BDRIS in 1982. Data collection began September 1, 1983. This system has historically collected data on the number of babies born with any of twelve common birth defects, monitored birth defect trends especially in relationship to environmental hazards, and provided information on the defects and services to the parents and families of affected infants. All patients with these disorders are eligible for information and referral services at no charge. The twelve "sentinel" birth defects are chosen by the World Health Organization for their international birth defects surveillance program. These include: Anencephaly, Spina Bifida, Hydocephalus, Cleft Lip with or without Cleft Palate, Cleft Palate, Esophageal Atresia/Tracheo-Esophageal, Fistula, Rectal/Anal Atresia, Hypospadias, Reduction Deformity (upper limb), Reduction Deformity (lower limb), Congenital Hip Dislocation, and Down Syndrome. In 2008 legislation was passed to expand the program to collect data on all significant birth defects. Advisory committees to guide the expansion are expected to begin meeting in late 2008.
The National Organization for Rare Disorders provides information and resources for families and medical providers about rare conditions. You can visit their website at http://rarediseases.org/