Baby Detect : Genomic Newborn Screening

3-Hydroxy 3-Methyl Glutaric Aciduria, 3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency, Aciduria, Argininosuccinic, Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of, Adrenoleukodystrophy, Alpha 1-Antitrypsin Deficiency, Alpha-Thalassemia, Alport Syndrome, Andersen Tawil Syndrome, Argininemia, Aromatic L-amino Acid Decarboxylase Deficiency, Ataxia With Vitamin E Deficiency, Beta Ketothiolase Deficiency, Biotinidase Deficiency, Brain Dopamine-Serotonin Vesicular Transport Disease, Branched-Chain Keto Acid Dehydrogenase Kinase Deficiency, Carbamoyl Phosphate Synthase 1 Deficiency, Carnitine Acylcarnitine Translocase Deficiency, Carnitine Palmitoyltransferase Deficiency 1, Carnitine Palmitoyltransferase Deficiency 2, Catecholaminergic Polymorphic Ventricular Tachycardia, Cerebral Folate Transport Deficiency, Charcot-Marie-Tooth Disease, Type 6C, Chediak-Higashi Syndrome, Chronic Granulomatous Disease, Citrullinemia 1, Citrullinemia Type II, Cobalamin Deficiency, Congenital Adrenal Hyperplasia, Congenital Hypothyroidism, Congenital Myasthenic Syndrome, Congenital Nephrotic Syndrome, Finnish Type, Creatine Deficiency Syndrome, Crigler-Najjar Syndrome, Cystic Fibrosis, Cystinosis, Deficiency of GOT2, Deficit in Anterior Pituitary Function and Variable Immunodeficiency, Diamond Blackfan Anemia, Disaccharide Intolerance I, Dopamine Beta Hydroxylase Deficiency, Familial Chylomicronemia, Familial Hemophagocytic Lymphocytosis, Familial Hyperinsulinemic Hypoglycemia 1, Familial Hypertrophic Cardiomyopathy Type 4, Fanconi Anemia, Fanconi Bickel Syndrome, Fructose-1,6-Diphosphatase Deficiency, Fructosemia, Galactosemias, Gaucher Disease, Type 1, Glucose 6 Phosphate Dehydrogenase Deficiency, Glucose Galactose Malabsorption, Glut1 Deficiency Syndrome, Glutaric Acidemia I, Glycine Encephalopathy, Glycogen Storage Disease, Griscelli Syndrome, Hemophilia A, Hemophilia B, Hereditary Hyperekplexia, Hereditary Nephrogenic Diabetes Insipidus, Hereditary Retinoblastoma, Holocarboxylase Synthetase Deficiency, Homocystinuria, Hyperornithinemia-Hyperammonemia-Homocitrullinuria, Hypophosphatasia, Infantile, Inflammatory Bowel Disease 25, Autosomal Recessive, Isolated Methylmalonic Acidemia, Isovaleric Acidemia, Jervell-Lange Nielsen Syndrome, Late-Infantile Neuronal Ceroid Lipofuscinosis, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Lysosomal Acid Lipase Deficiency, Malonic Acidemia, Maple Syrup Urine Disease, Maturity Onset Diabetes of the Young, Medium Chain Acyl CoA Dehydrogenase Deficiency, Menkes Disease, Metachromatic Leukodystrophy, Mucopolysaccharidosis I, Mucopolysaccharidosis II, Mucopolysaccharidosis IV A, Mucopolysaccharidosis VI, Mucopolysaccharidosis VII, N Acetyl Glutamate Synthetase Deficiency, Ornithine Transcarbamylase Deficiency, Phenylalanine Hydroxylase Deficiency, Phosphoglucomutase 1 Deficiency, Phosphoglycerate Dehydrogenase Deficiency, Phosphoserine Aminotransferase Deficiency, Phosphoserine Phosphatase Deficiency, Pituitary Hormone Deficiency, Combined, Pompe Disease, Primary Hyperoxaluria, Progressive Familial Intrahepatic Cholestasis, Propionic Acidemia, Pseudohypoaldosteronism Type 1, Pseudohypoaldosteronism, Type II, Pyridoxine-5'-Phosphate Oxidase Deficiency, Pyridoxine-Dependent Epilepsy, Riboflavin Deficiency, Riboflavin Transporter Deficiency, S-Adenosylhomocysteine Hydrolase Deficiency, Segawa Syndrome, Autosomal Recessive, Sepiapterin Reductase Deficiency, Severe Combined Immune Deficiency, Severe Congenital Neutropenia, Shwachman-Diamond Syndrome, Sickle Cell Disease, Smith-Lemli-Opitz Syndrome, Succinyl-Coa:3-Ketoacid Coa-Transferase Deficiency, Systemic Primary Carnitine Deficiency, Thiamine Metabolism Dysfunction Syndrome 2, Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type), Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type), Thiamine-Responsive Megaloblastic Anemia, Timothy Syndrome, Transcobalamin Deficiency, Tyrosinemia, Type I, Very Long Chain Hydroxy Acyl Dehydrogenase Deficiency, Wilson Disease, Wiskott-Aldrich Syndrome, X Linked Hypophosphatemia

Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions. With a simple blood test, rare genetic conditions can be easily detected, and the early start of transformative treatment will help avoid severe disabilities and increase the quality of life. Baby Detect Project is an innovative NBS program using a panel of target sequencing that aims to identify 126 treatable severe early onset genetic diseases at birth caused by 361 genes. The list of diseases has been established in close collaboration with the Paediatricians of the University Hospital in Liege. The investigators use dedicated dried blood spots collected between the first day and 28 days of life of babies, after a consent sign by parents.

Every year, thousands of children around the world are born with rare genetic diseases leading to death or lifelong disability. With technological advancements in the field of genetics and medicine, the rate of introduction of treatments for these rare conditions has grown remarkably. However, timing is of great importance for medication administration. The benefit that can be measured in a patient who has already suffered from a long irreversible degenerative disorder is small and, sometimes, it hardly justifies the cost and the burden of the treatment. Early diagnosis is, thus, of primary importance both to obtain the best effect of the innovative medications and to accelerate their development. The investigators are pioneered in the field of genetic newborn screening (NBS) in rare diseases by funding, designing, and leading an innovative genetic NBS program initiated in March 2018 in Southern Belgium for Spinal Muscular Atrophy (SMA) that allowed, so far, for 11 children to be detected and treated early and avoid the terrible fate of the disease. The program was disseminated in 17 countries and included public dissemination and health-economic analysis since the very beginning \[1\]. (www.facebook.com/sunmayariseonsma). Drawing upon our experience with SMA screening, the investigators have designed a project to screen up to 40,000 newborns/year progressively in 3 years for virtually all the rare diseases that can benefit from treatment or a pre-symptomatic clinical trial. The methodology of Baby Detect includes sequencing of target genes on dried blood spots collected from the NBS cards in a timely and cost-efficient manner, and its high dynamicity allows for any newly treatable rare disease to be included in its scheme in no longer than 6 months. Baby Detect, as a multidisciplinary newborn screening program, involves expertise in areas from genetics and medicine to laboratory studies, computer science, Data Protection, Ethics, and health economy. It will constitute the proof of concept that is needed before moving to a whole region-scale population.

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