Prenatal genome sequencing raises ethical issues for gene sequencing labs and clinical labs, since a baby’s genetic information may present lifelong consequences for that individual
Pathologists and clinical laboratory managers will be interested to learn that another milestone in genetic testing was reached earlier this year. A geneticist at the University of California at Davis, has sequenced the whole human genome of his unborn baby, the first time this feat has been accomplished.
Notably, it was geneticist and graduate student Razib Khan of the UC Davis School of Veterinary Medicine who sequenced his unborn son’s genome during the third trimester of pregnancy using a sample of the fetus’ placenta. This is the first healthy person born in the United States with his entire genetic makeup deciphered prior to birth, noted a recent story published by the MIT Technology Review. (more…)
This new tool offers clinicians the dos and don’ts of genetic testing, what physicians need to know to do it properly
Clinical use of gene sequencing information has advanced to the point where a team of genetic experts has compiled and issued the Genetic Testing Handbook. The goal of the clinical genome and exome sequencing (CGES) handbook is to provide clinicians—including pathologists and clinical laboratory scientists—with a useful reference tool.
The authors of the Genetic Testing Handbook are Leslie G. Biesecker, M.D., of the National Human Genome Research Institute (NHGRI) in Bethesda, Maryland, and Robert C. Green, M.D., M.P.H., a geneticist who is an Associate Professor of Medicine at Harvard Medical School.
Primer Distills Human Genome Project Technologies for Practical Use
“The technologies that were used for the Human Genome Project are now distilled down to practical tools that clinicians can use to diagnose and, hopefully, treat diseases in patients that they couldn’t treat before,” stated Biesecker, who serves as Chief and Senior Investigator at the NHGRI’s Medical Genomics and Metabolic Genetics Branch, in a press release issued by the National Institutes of Health (NIH). (more…)
More precise diagnoses will encourage pathologists and clinical laboratory professionals to consider using exome sequencing for clinical diagnostic purposes
Having sequenced the exomes of 150 patients to diagnose unknown disorders over the past year, physicians at Columbia University (CU) used that information to make decisive diagnoses in one-third of the cases. It is evidence from one of the nation’s pioneering gene-sequencing programs that such data can improve how physicians identify disease.
Findings from Exome Sequencing Program Noteworthy for Pathologists
Pathologists will find it noteworthy that some of the patients in the exome-sequencing program had been tracked for years at CU without a definitive diagnosis. This is why clinicians at the academic center in New York City see value in exome sequencing for selected patients.
For more than a year, doctors at Columbia University have tested the exome’s capability to provide a correct diagnosis for patients with suspected genetic disorders of unknown origins. The primary goal of the program is to prove that sequencing the exomes of these patients is both clinically useful and cost effective in guiding physicians to a correct diagnosis. (more…)