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Gene sequencing delivers relief to patients searching endlessly for answers

| | September 13, 2016

Now more affordable than ever, [gene sequencing] is making headway in diagnosing rare diseases, giving patients answers to medical mysteries that in some cases have dragged on for years.

But James Evans…urges caution…[T]here is still great uncertainty about how to interpret the meaning of small blips in vast stretches of genetic code.

Sequencing is particularly valuable in the diagnosis of genetic forms of vision loss, neurodevelopmental delays, and cases of acute illness in children. Success rates are also higher when both of a patient’s parents are sequenced, ranging from 40% to nearly 75%.

“Genome-scale sequencing has offered a truly tremendous leap in our ability to diagnose diseases that have at their root a genetic cause,” Evans says.

Turning diagnoses into treatments remains a work in progress, however. Most patients who get answers find themselves in a state of limbo with a new-found disease that nobody knows how to treat or cure. Nevertheless, many patients say it still brings them a degree of peace, especially after years spent bouncing from doctor to doctor.

The GLP aggregated and excerpted this blog/article to reflect the diversity of news, opinion and analysis. Read full, original post: Diagnosis: A clear answer

The GLP aggregated and excerpted this article to reflect the diversity of news, opinion, and analysis. Click the link above to read the full, original article.
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