Genetic disease

Approximately 2-3% of all pregnancies result in a neonate with a serious genetic disease or birth defect.

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.

Genetic variant classification: pathogenic, likely pathogenic, likely benign, benign, and uncertain significance.
The vast majority of genetic variants in any person or a benign and inherited from one parent to the other.

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