Science Saturday: Saving time, lives and resources with new genetic ...
Genomics experts worldwide released a paper highlighting advances in rare disease, cancer, population health and carrier screening at the 10th Annual Individualizing Medicine Conference on Saturday, Oct. 9. "The use cases we explored in the paper, 'The Economic Analysis of the Value of Genetic Testing' are only the tip of the iceberg in the realm […]

A silent tumor, precancerous polyps and the power of genetic screening
Dr. Lazaridis says Mayo Clinic is advancing the idea of bringing genetic screening to routine patient care to help identify patients at high risk for cancer and other diseases, enabling earlier screening and mitigating the risk of cancer, the need to use expensive and limited therapies for advanced disease, and reducing premature deaths.

Mayo Clinic Q and A: Genetic testing and antidepressants
Science Saturday: Direct to consumer genetic testing shifting landscape published 2/10/18; Mayo Clinic Q and A: Pharmacogenomics — individualizing medication to improve care published 1/19/18; Mayo Clinic Minute: 3 things to know about home genetic testing published 10/4/17

9 common questions about genetic testing for cancer
About 10% of cancers are considered hereditary or have a single specific genetic component that can be tested and increase a person's risk for developing cancer. Genetic counseling and genetic testing can help determine which category a person's individual or family cancer falls into. It also can help estimate your risk for developing cancer.

Comprehensive testing helps diagnose and manage rare genetic disorder
Fabry disease is a rare genetic disorder that prevents the body from producing enough healthy alpha-galactosidase A (alpha-GAL) enzymes. Without functioning alpha-GAL enzymes, harmful levels of fat-like substances called sphingolipids build up in the blood vessels.

Mayo Clinic study uncovers genetic cancer risks in 550 patients
PHOENIX — Current screening protocols fail to catch a notable number of people carrying genetic mutations associated with hereditary breast and ovarian cancer syndrome and Lynch syndrome, which increase the risk of developing certain cancers. This issue is particularly pronounced among underrepresented minorities.

Mayo Clinic Q and A: Understanding carrier screening for family ...
Carrier screening is a valuable tool in family planning, offering couples vital information about their carrier status for up to 500 genetic conditions and the risk of passing those conditions on to their children. It can help people make informed decisions about reproductive options and allows for early intervention and treatment if necessary.

Advancing rare disease breakthroughs with genomics, AI and innovation
In 2023, the Program team facilitated genetic testing for 860 patients with a suspected rare disease and successfully identified genetic causes for undiagnosed diseases in nearly 30% of patients.

Mayo Clinic's DNA study reveals BRCA1 mutations in 3 sisters, prompts ...
Dr. Lazaridis says the immense impact of population-scale genetic screening reaches far beyond the benefits to individual people. It is also about the biological family members of those affected. “It provides a collective wisdom that can shape public health strategies, increase disease prevention, and advance individualized medicine.

Science Saturday: The benefits of genetic testing for healthy people
Between 2014 and 2019, 301 of 1,281 patients pursued predictive genetic testing at Mayo's Predictive Genomics Clinic, where diagnosis and treatment are individually tailored. Of note: Overall, 11.6% of patients, or 35 of 301 of patients, had a gene that was associated with a hereditary risk, most commonly the BCHE, BRCA2, CHEK2, LDLR, MUTYH or ...