American College of Medical Genetics recommendations
Core panel
The following conditions and disorders were recommended as a “core panel” by the 2005 report of the American College of Medical Genetics (ACMG).[1] The incidences reported below are from the full report, though the rates may vary in different populations.[2]
Blood cell disorders
- Sickle cell anemia (Hb SS) > 1 in 5,000; among African-Americans 1 in 400
- Sickle-cell disease (Hb S/C) > 1 in 25,000
- Hb S/Beta-Thalassemia (Hb S/Th) > 1 in 50,000
Inborn errors of amino acid metabolism
- Tyrosinemia I (TYR I) < 1 in 100,000
- Argininosuccinic aciduria (ASA) < 1 in 100,000
- Citrullinemia (CIT) < 1 in 100,000
- Phenylketonuria (PKU) > 1 in 25,000
- Maple syrup urine disease (MSUD) < 1 in 100,000
- Homocystinuria (HCY) < 1 in 100,000
Inborn errors of organic acid metabolism
- Glutaric acidemia type I (GA I) > 1 in 75,000
- Hydroxymethylglutaryl lyase deficiency (HMG) < 1 in 100,000
- Isovaleric acidemia (IVA) < 1 in 100,000
- 3-Methylcrotonyl-CoA carboxylase deficiency (3MCC) > 1 in 75,000
- Methylmalonyl-CoA mutase deficiency (MUT) > 1 in 75,000
- Methylmalonic aciduria, cblA and cblB forms (MMA, Cbl A,B) < 1 in 100,000
- Beta-ketothiolase deficiency (BKT) < 1 in 100,000
- Propionic acidemia (PROP) > 1 in 75,000
- Multiple-CoA carboxylase deficiency (MCD) < 1 in 100,000
Inborn errors of fatty acid metabolism
- Long-chain hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) > 1 in 75,000
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) > 1 in 25,000
- Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) > 1 in 75,000
- Trifunctional protein deficiency (TFP) < 1 in 100,000
- Carnitine uptake defect (CUD) < 1 in 100,000
Miscellaneous multisystem diseases
- Cystic fibrosis (CF) > 1 in 5,000
- Congenital hypothyroidism (CH) > 1 in 5,000
- Biotinidase deficiency (BIOT) > 1 in 75,000
- Congenital adrenal hyperplasia (CAH) > 1 in 25,000
- Classical galactosemia (GALT) > 1 in 50,000
- Severe combined immune deficiency (SCID)
Newborn screening by other methods than blood testing
- Congenital deafness (HEAR) > 1 in 5,000
- Critical congenital heart defects (Screened using pulse oximetry)
Secondary targets
The following disorders are additional conditions that may be detected by screening. Many are listed as “secondary targets” by the 2005 ACMG report.[1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals.[1]
Blood cell disorders
- Variant hemoglobinopathies (including Hb E)[1]
- Glucose-6-phosphate dehydrogenase deficiency (G6PD)
Inborn errors of amino acid metabolism
- Tyrosinemia II[1]
- Argininemia[1]
- Benign hyperphenylalaninemia
- Defects of biopterin cofactor biosynthesis[1]
- Defects of biopterin cofactor regeneration[1]
- Tyrosinemia III[1]
- Hypermethioninemia[1]
- Citrullinemia type II[1]
Inborn errors of organic acid metabolism
- Methylmalonic acidemia (Cbl C,D)[1]
- Malonic acidemia[1]
- 2-Methyl 3-hydroxy butyric aciduria[1]
- Isobutyryl-CoA dehydrogenase deficiency[1]
- 2-Methylbutyryl-CoA dehydrogenase deficiency[1]
- 3-Methylglutaconyl-CoA hydratase deficiency[1]
- Glutaric acidemia type II
- HHH syndrome (Hyperammonemia, hyperornithinemia, homocitrullinuria syndrome)
- Beta-methyl crotonyl carboxylase deficiency
- Adenosylcobalamin synthesis defects
Inborn errors of fatty acid metabolism
- Medium/short-chain L-3-hydroxy acyl-CoA dehydrogenase deficiency[1]
- Medium-chain ketoacyl-CoA thiolase deficiency[1]
- Dienoyl-CoA reductase deficiency[1]
- Glutaric acidemia type II[1]
- Carnitine palmityl transferase deficiency type 1[1]
- Carnitine palmityl transferase deficiency type 2[1]
- Short-chain acyl-CoA dehydrogenase deficiency (SCAD)[1]
- Carnitine/acylcarnitine Translocase Deficiency (Translocase)[1]
- Short-chain hydroxy Acyl-CoA dehydrogenase deficiency (SCHAD)
- Long-chain acyl-CoA dehydrogenase deficiency (LCAD)
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
Miscellaneous multisystem diseases
Bioethics
As additional tests are discussed for addition to the panels, issues arise. Many question if the expanded testing still falls under the requirements necessary to justify the additional tests.[50] Many of the new diseases being tested for are rare and have no known treatment, while some of the diseases need not be treated until later in life.[50] This raises more issues, such as: if there is no available treatment for the disease should we test for it at all? And if we do, what do we tell the families of those with children bearing one of the untreatable diseases?[51] Studies show that the more rare the disease is and the more diseases being tested for, the more likely the tests are to produce false-positives.[52] This is an issue because the newborn period is a crucial time for the parents to bond with the child, and it has been noted that ten percent of parents whose children were diagnosed with a false-positive still worried that their child was fragile and/or sickly even though they were not, potentially preventing the parent-child bond forming as it would have otherwise.[51] As a result, some parents may begin to opt out of having their newborns screened. Many parents are also concerned about what happens with their infant’s blood samples after screening. The samples were originally taken to test for preventable diseases, but with the advance in genomic sequencing technologies many samples are being kept for DNA identification and research,[50][51]increasing the possibility that more children will be opted out of newborn screening from parents who see the kept samples as a form of research done on their child.
Connie’s comments: In the past, it takes 5 years or more to do one test at a time for any metabolic or newborn health screens. Now with the latest medical device and biotech technologies, multiple health screens (genetic) can be done in one blood test.
Genetic tests for 1-5yr olds to help you prepare for any health issues 18yrs later
Reblogged this on Health data, consumer driven and science based.