Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Melanoma Cases, Expected to Double in 10 Years, Could Pose Legal Risks to Path Labs
Melanoma cases are expected to double before the end of the decade from an anticipated 138,000 new cases this year to 227,000 new cases in 2019, according to a report from Datamonitor, an international consultancy that focuses on health-care issues
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The increase, triggered by "continued exposure to risk factors," presents a "real opportunity for drug developers willing to invest in this market," according to Datamonitor.
In its report, the company highlights a number of targeted therapies that are designed to work in patients with certain genotypes or gene-expression profiles. For instance, one drug, PLX-4032, is designed to target patients with V600E BRAF mutations; MAGE-A3 ASCI, developed by GlaxoSmithKline, will be targeted at individuals whose tumors over-express MAGE-A3; and two drugs being developed by Novartis could work for patients with c-kit mutations.
"As melanoma tumor gene expression becomes better understood, the patient population will become increasingly segmented," according to the report.
An increase in new cases could also be a boon to path labs that perform tests that detect the disease, and it should likewise prompt them to be extra vigilant in avoiding misdiagnoses.
As I reported earlier this month from the Association of Genetic Technologists' annual meeting in Phoenix, a brewing epidemiological storm fed by an increasing ageing Baby Boomer population and the notorious grey zone associated with diagnosing melanoma could make path labs a target of malpractice lawsuits.
Indeed, "because of the ambiguous or grey zone inherent in current [diagnostic] techniques, melanoma has become the most litigated area in pathology," according to NeoGenomics President Robert Gasparini, who spoke at the AGT conference.
NeoGenomics, which has offered a FISH-based LDT for melanoma since February, said "[f]ailure to recognize melanoma is potentially fatal, but labeling a benign lesion as malignant can lead to unwarranted wide re-excisions, sentinel lymph node biopsies, adjuvant toxic therapeutic interventions and the emotional strain of facing a diagnosis of cancer."
As I noted, that can stir enough blood in the water to lure malpractice attorneys from miles around.
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