As you hold you’re new born; all that matters, that you want a healthy baby. You imagine what traits you’ll pass on. Does he/she have any resemblance with you. Your eyes, your nose etc. However, you may not consider what else you could be passing on to your baby through your genes, including a serious condition like Inborn Errors of Metabolism
Every person comes with a blueprint, known as the genes. Which tells each cell what to do and when to play its part. When these instructions (necessary for building proteins, metabolising carbohydrates and fats) are incorrect; may result in deficiency or toxicity of a nutrient, which can cause many problems within the body.
Inborn errors of metabolism are a group of genetic disorders characterized by biochemical functional abnormalities. The Diagnostic odyssey for Inborn errors of metabolism leaves a large fraction of individuals without a diagnosis. Early diagnosis is very crucial to significantly decrease a wide range of symptoms and to control development delays in your baby.
(Image source: https://globalgenes.org/toolkits/discussgenetics/intro/)
Of the estimated 7000 rare diseases, approximately 80% have a genetic origin. Genetic mutations can be inherited from a parent’s gene or they can be de novo, which means the change is new to a person. If a change in only one copy of the gene causes a disease, the disease is referred to as a dominant disorder. If a disease only results when there are changes in both copies of a gene, the disease is referred to as a recessive disorder.
Genetic testing is a new technique that has revolutionized diagnostics in patients with suspected inborn errors of metabolism. The term “genomic screening” refers to the mapping and examination of an individual’s entire genome (or DNA). In other words, it is targeted at fixing the faulty gene or genes directly and restoring the functional component.
Gene therapy can involve:
- Inserting a normal gene
- Switching a mutated gene for a normal gene
- Changing how often the gene turns on to make a protein or turns off to stop making a protein
Molecular genetic techniques are being used increasingly in Newborn Screening programs. It involves genotypic confirmation of positive screening tests by DNA micro extraction/direct amplification from the dried blood spots. Evolution in technology is accelerating the speed and reducing the cost of genetic testing, making it more accessible to patients. Through these methods, doctors can determine the molecular cause of the rare disease which can lead to improved treatment. This will establish genetic testing as an initial or follow-up test for Newborn Screening to improve the clinical utility.
We are still at the earliest reference point of genetic treatment. This new understanding is now helping patients and families find a diagnosis and the more patients who are undiagnosed today will benefit and stopping their diagnostic odyssey.