Scientists find cause of autism in ‘junk’ DNA

Using Artificial Intelligence (AI), researchers have discovered new genetic flaws that contribute to autism in people. Most previous research on the genetic basis of disease has focused on the 20,000 known genes and the surrounding sections of DNA that regulate those genes. However, even this enormous amount of genetic information makes up only slightly more than one per cent of the 3.2 billion chemical pairs in the human genome.

The other 99 per cent has conventionally been thought of as “dark” or “junk,” although recent research has begun to disrupt that idea. In their new finding, the research team offers a method to make sense of this vast array of genomic data.

The system uses an AI technique called deep learning in which an algorithm performs successive layers of analysis to learn AZ-about patterns that would otherwise be impossible to discern. The algorithm teaches itself how to identify biologically relevant sections of DNA and predicts whether those snippets play a role in any of more than 2,000 protein interactions that are known to affect the regulation of genes.

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Genetic testing guidelines for breast cancer are outdated

Genetic testing guidelines for breast cancer are out-of-date and miss nearly half of patients diagnosed with the malignancy, doctors found in a new analysis of who gets tested and who doesn't. 

Health insurance companies and government payers base how they reimburse patients for tests and procedures on existing medical guidelines. Genetic testing recommendations for breast cancer are two decades old, established by  a group of 28 cancer centers nationwide.

The guidelines focus on two well-known breast cancer mutations—BRCA 1 and BRCA 2—which were discovered in the 1990s. Since then, dozens of other genes related to breast cancer have been found, and if patients do not undergo appropriate genetic screening, they may not receive appropriate care for their form of the disease, doctors said in the report published recently.

Ten percent to 15 percent of about 250,000 women diagnosed annually in the United States with breast cancer have some type of genetic flaw, according to the doctors. A very small percentage of men develop breast cancer, usually stemming from a BRCA 2 mutation.

"The guidelines are very limited and need to be changed," said a researcher.

She added that the recommendations are rooted in dated science at a time when dozens of other cancer-related genes not only have been found, but can be revealed in newer tests.

Long after the discovery of BRCA 1 and BRCA 2, scientists identified a dozen other key gene mutations related to breast cancer, as well as 25 or so genetic variants that are related to multiple forms of cancer, including breast cancer. As many as 80 cancer-related genes can be revealed in full-panel screening tests.

Costs for genetic screening have dropped substantially in recent years, from more than $3,000 for BRCA 1 and BRCA 2 screening to about $300 for the broader panel of tests. 

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