Newborn Rare Disease Screening

1.   Abstract

Genetic diseases are caused by changes in an individual’s DNA, often inherited from parents, that can significantly affect health and well being.   Genetic testing can help identify these mutations, providing valuable information on an individual's risk of developing certain diseases or passing them on to their children.

2.   Background

Our genes hold the instructions for how our bodies grow and function, but sometimes,errors in the genetic code can lead to diseases.  These errors, or mutations, can be inherited from one or both parents, increasing the risk of developing certain genetic disorders.   By identifying these mutations early through genetic testing, individuals can take preventive actions or make informed decisions about their health and family planning.

Genetic diseases range from common conditions, such as cystic fibrosis or sickle cell anemia, to more rare disorders like Huntington’s disease.   Understanding your genetic risk can empower you to take control of your health and explore available treatment options.

3.   Technology Overview

· SNP Analysis: Single Nucleotide Polymorphisms (SNPs) are small genetic variations that can indicate an increased risk of genetic diseases.   By analyzing SNPs, we can identify whether you carry mutations linked to conditions like cystic fibrosis, hemophilia, or Tay-Sachs disease.

· Carrier Screening: Carrier screening identifies whether an individual carries a recessive gene for a genetic disorder, which may be passed on to their children.   Even if a person doesn’t have the disease themselves, knowing their carrier status can help inform reproductive decisions