Advisory Council on Hereditary and Congenital Disorders
Upcoming MeetingAdvisory Council on Hereditary and Congenital Disorders TBA 201 W. Preston Street, Conference Room L-1 Email inquires to dxharris@dhmh.state.md.us |
Advisory Council on Hereditary and Congenital Disorders
Policies pertaining to the detection and management of hereditary disorders are set by the Advisory Council on Hereditary and Congenital Disorders. This body was previously called the Commission on Hereditary Disorders. The Council has legislative, medical, and consumer members. The consumers are in the majority. The Council considers the incidence of each disease, the effectiveness of treatment, the cost of treatment, public sentiment, the opinions of affected individuals and the opinions of psychological, ethical, social and economic "experts" in drafting regulations for genetics programs, such as the newborn screening program. The statute establishing the Council requires all genetics programs to be voluntary, to obtain informed consent, to make test results available to the patients and their health care providers, to respect confidentiality, to provide non-directive genetic counseling and to utilize accurate testing procedures and licensed laboratories. The pertinent regulations for newborn screening are COMAR 10. 52. 13.
Implementation of Newborn Screening
Accordingly, newborn screening is voluntary in Maryland. Refusal is very rare and must be documented. The regulations place the responsibility for the implementation of newborn screening on the institution in which the child is born and require the institution to offer screening to any child born in Maryland. There are about 600 out-of-hospital births yearly and the person legally responsible for filing the birth certificate is responsible for offering testing.
The Maryland Department of Health and Mental Hygiene's laboratory charges a nominal fee to analyze newborn screening specimens. (The charge is currently $70.00 per child and covers as many screening specimens as may be needed.) The Department of Health and Mental Hygiene determines whether specimens are satisfactory and which tests shall be employed.
Newborn Screening Specimens
Testing is done at the State Public Health Laboratory. The State Public Health Laboratory began perfecting its technique in 1963 and statewide screening began in 1965. Maryland was the second state to initiate statewide newborn screening (after Massachusetts). Maryland screens for all the disorders recommended by the American College of Medical Genetics and the March of Dimes.
Maryland offers screening for babies twice: initially, after 24 hours of milk feedings and then again at about 2 weeks of age. The initial specimen is usually collected at the hospital just before discharge. Specimens drawn before 24 hours of age are not fully satisfactory. Tests run on such specimens are less sensitive in detecting many of the metabolic disorders. In addition, there are many false positive results for hypothyroidism (because of the TSH surge accompanying birth). The results of testing for congenital adrenal hyperplasia (CAH) are also unreliable. Therefore, if the initial specimen is drawn before the baby is 24 hours old a repeat specimen is requested before the child is 2 weeks old. A subsequent specimen (the third in these cases) is still recommended at the next pediatric visit. The utility of this later screen, given the earlier repeat, is being evaluated.
Newborn specimens are tested for disorders of amino acid metabolism, organic acid metabolism, fatty acid oxidation, the urea cycle, galactosemia, hypothyroidism (T4, followed by TSH, if T4 is abnormal), CAH, sickle cell anemia, biotinidase deficiency and cystic fibrosis. Subsequent samples are not tested for sickle cell disease, biotinidase deficiency or galactosemia, if a fully satisfactory and normal newborn sample is on file. Otherwise, the full battery of tests is run. Historically, approximately 3% of our confirmed cases of PKU and 15% of our confirmed cases of hypothyroidism were picked up on the subsequent screen, after unremarkable initial screens. Children with homocystinuria and tyrosinemia may be missed on an initial screen but picked up on a second screen because of the natural history of these disorders; i.e., that the indicator metabolite levels rise only relatively slowly. There is no doubt that the initial screen is the priority item, but the subsequent screen has proven valuable in Maryland. It remains to be seen whether the introduction of tandem mass spectrometry in 2003 has changed the situation.
Disease Descriptions Links for ParentsNewborn Screening Results
The initial specimen, usually obtained by the hospital, is sent to the laboratory by courier. If the initial specimen was obtained before the child had 24 hours of milk feedings, a repeat specimen is obtained at the pediatrician's office, in the home by a visiting nurse or on a return visit to the hospital of birth. A 1996 law requires insurers to pay for a home visit if the mother and child leave the hospital sooner than 48 hours after the birth. Normal results on initial specimens are reported by mail from the lab to the hospital. Subsequent specimens are usually submitted by the child's pediatrician. Normal results on subsequent specimens are reported by mail from the lab to the child's pediatrician. The lab includes a copy of the results on any previous specimens submitted on that child. The lab also sends a copy of the reports on all subsequent specimens back to the hospital in which the child was born.
Abnormal results are always phoned by the lab to the Newborn Screening Follow up Unit, the medical arm of the newborn screening program. The Follow up Unit immediately notifies the baby’s physician and arranges referral for definitive diagnostic work-up. A physician (board certified in pediatrics and genetics), a nurse and a genetic counselor handle the calls.
Sometimes it is difficult to identify a baby’s physician. About a third of the time this information is not written on the lab slip by the hospital. (Sometimes the parents don’t yet know who the pediatrician will be by the time they leave the hospital.) If the Follow up Unit cannot identify a baby’s physician, they will have to call the baby’s family to ask who the baby’s pediatrician will be. They will answer as many of the parent’s questions as possible but the most important thing is to reach the baby’s doctor and get the baby the proper follow-up testing and care within the necessary time frame. There is no good way to tell a parent that their baby has had an abnormal newborn screening test result. The Follow up staff really care and want to help, but parents are almost always frightened and upset. Although it is perfectly natural, parents really need not be alarmed to receive a call from the State health department. Every baby with an abnormal screening test result does not actually have the disorder. There are many other causes of abnormal test results. This is only a screening test. More testing is needed to find out whether the baby really is affected with the disorder or not. Not every disorder is life threatening and not every disorder requires emergency treatment. However, every baby who has a disorder will receive the very best treatment currently available. The only real tragedy is not getting the baby the right treatment in time. The laboratory calls the submitter of the specimen if other than the child's physician, informs them that the test result was abnormal and that the health department Follow up Unit has contacted the child's physician. If the baby’s physician is not a submitter and can not look up the report online, the laboratory will send the baby’s regular physician and the hospital copies of the abnormal laboratory report by mail. Call 410-767-6099 to request a written report.
Genetic Counseling
Genetic counseling and long-term case management are offered to diagnosed cases. The metabolic aspects of care for the confirmed cases are managed by a medical geneticist at one of the State designated genetics centers. However, the child's own pediatrician continues to provide routine pediatric care and a medical home. An expert educational psychologist is available for assessment of intellectual development. Ongoing dietary management is provided at no cost to the family by expert health department nutritionists. A 1995 law requires private health insurance companies to reimburse families for the special formulas and low protein modified food products used to treat the disorders. WIC and Medical Assistance provide the special formulas to families eligible for their programs. Other long-term treatment costs are not underwritten by the health department except when patients are eligible for specific programs like Medical Assistance or Children's Medical Services.