More than 2500 genes are associated with childhood – onset autosomal, recessive, or X-linked conditions.
Approximately 2-3% of all pregnancies result in a neonate with a serious genetic disease or birth defect.
Genetic disorders affect an estimated 5 to 10% of children and account for a disproportionate share of hospitalizations and childhood deaths.
Rare genetic disease is affects fewer than 200,000 individuals in the US.i
Before 25 years of age at least 53 of 1000 liveborn individuals have diseases with an important genetic component.
Genetic diseases are rare, affecting fewer than 62 per hundred thousand people in the US or ultra rare affecting fewer than two per hundred thousand people and there are many thousands of different genetic disorders.
Lifetime frequency estimated to be 670 per 1000 and includes genetic disorders along with cancer and cardiovascular diseases.
At least 3% of all cancer cases are attributed to hereditary variation in cancer predisposition genes, and 5-20% of breast cancer or ovarian cancer cases are linked to genetic abnormalities.
Estimated that 50% of spontaneous abortions during early months of gestation have a demonstrable chromosomal abnormality.
The number of single gene disorders is approximately 14,000.
Most association studies indicate that most common genetic risks are modest with risks in the range of 1.3 or less, suggesting that many disorders are a result of a combination of genetic and environmental factors.
The vast majority of genetic variants in any person or a benign and inherited from one parent to the other.
Historically individuals with increased chance of having an offspring with recessive or X-related conditions have learned of their genetic carrier status after the birth of an affected child.
Couple based reproductive genetic carrier screening is feasible to be delivered to a diverse and geographically dispersed population (Kirk EP).
Genomic sequencing is an effective first tier diagnostic approach for children with suspected genetic disease.
Exome and genome sequencing achieve diagnostic yields approaching 50% for children with congenital anomalies, neurodevelopmental disorders, and sensory deficits.
An estimate estimated 10 to 25% of the approximately 400,000 annual neonatal intensive care unit admissions in the US involve an undiagnosed genetic condition.
Genotype informed therapy allows new treatment strategies for therapies that include enzyme replacements, pharmacological chaperones, small molecule. Iagents, and gene based interventions.