The relationship between MTHFR variants and thrombosis risk is a complex issue, but current evidence points to no association between the most common variants and an elevated risk.Read More
Patients with the rare autosomal recessive disorder congenital erythropoietic porphyria (CEP) experience both cutaneous photosensitivity and hematologic abnormalities which can result in disfiguring lesions, corneal scarring and transfusion-dependent anemia.
For the first time, the FDA has formally recognized the process that led to curation of a public database containing information about genes, gene variants (including PTEN) and their relationship to disease as a source of scientific evidence that can be used to support clinical validity in pre-market submissions.
Key points to share with your patients who arrive with consumer genetic testing report in hand, and when to refer them to specialists.
No large-scale Parkinson’s disease genetic studies have ever been conducted in Latino populations — until now. The leader of the LARGE-PD cohort study explains its rationale and goals.
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Metagenomic next-generation sequencing holds great promise as well as great danger and necessitates the most judicious use by providers who thoroughly understand the strengths and limitations of this technology.
While the approval of the first DTC pharmacogenomics test provides exciting opportunities to educate the general public about the clinical value of pharmacogenomics, it also must be viewed with caution.
A new study examining the gene phosphate and tensin homolog (PTEN) calls for both early detection of cancer and awareness of the importance of precision therapy.
Is it time for us to use pharmacogenomics to find safe and effective doses of tamoxifen for patients — optimizing clinical outcomes with minimal side effects? Dr. Jennifer Hockings discusses.
Pharmacogenomic testing may one day be feasible for ADHD. Jennifer Hockings, PharmD, PhD, explains a growing body of research to-date and what additional work is still needed to make it become a reality.
Caroline Astbury, PhD, FACMG, discusses the disruptive and ever-changing field of cytogenomics.