Skip to main content
Premium Trial:

Request an Annual Quote

Good Start Genetics Presents Validation Results for NGS Carrier Screening Test


Good Start Genetics this week presented results from a validation study of its next-generation sequencing-based carrier screening technology at the American Society for Reproductive Medicine annual meeting.

Using proprietary multiplex gene capture, next-gen sequencing, and computational analysis, the researchers analyzed 56 samples containing at least one out of a total of 93 previously characterized disease-causing mutations, according to the meeting abstract. Several of the samples contained two mutations because they were obtained from compound-heterozygous individuals affected by the disease.

The researchers accurately identified all 93 mutations, which are associated with eight genetic disorders: Canavan disease, maple syrup urine disease, cystic fibrosis, glycogen storage disease 1a, Tay-Sachs, familial dysautonomia, mucolipidosis IV, and Niemann-Pick type A.

The company plans to launch its carrier screening test commercially in the first quarter of 2012.

The Scan

Researchers Develop Polygenic Risk Scores for Dozens of Disease-Related Exposures

With genetic data from two large population cohorts and summary statistics from prior genome-wide association studies, researchers came up with 27 exposure polygenic risk scores in the American Journal of Human Genetics.

US Survey Data Suggests Ancestry Testing Leads Way in Awareness, Use of Genetic Testing Awareness

Although roughly three-quarters of surveyed individuals in a Genetics in Medicine study reported awareness of genetic testing, use of such tests was lower and varied with income, ancestry, and disease history.

Coral Genome Leads to Alternative Amino Acid Pathway Found in Other Non-Model Animals

An alternative cysteine biosynthesis pathway unearthed in the Acropora loripes genome subsequently turned up in sequences from non-mammalian, -nematode, or -arthropod animals, researchers report in Science Advances.

Mosquitos Genetically Modified to Prevent Malaria Spread

A gene drive approach could be used to render mosquitos unable to spread malaria, researchers report in Science Advances.