Science & Medicine

MPN Genomic Survey

Report from the Front lines

By Zhenya Senyak

DNA testing is radically changing the practice of medicine.

While we argue the merits of Pegasys vs hydroxyurea, consider the risks and benefits of Jakafi, and eagerly follow  billion dollar drug clinical trials, right before our eyes a true revolution is taking place. The MPN landscape is changing shape. Under our feet, the ground is shifting.

The warning signs have been clear enough. In 2000 the Human Genome was sequenced. In 2005 Vainchenker and others revealed the JAK2v617f MPN driving mutation. Just a few years ago the Tony Green and Robert Kralovics groups separately unveiled another part of the puzzle, the CALR mutation; Jennifer Doudna and the Feng Zhang group launched CRISPR editing; and immunotherapy entered blood cancer treatment centers.  Finally,  in the past year or two  publication of  major findings resulting from deep sequencing and larger patient cohorts pushed the boundaries of MPN genomic research to the edges of contemporary practice.

Future generations will look back on the opening salvo of the 21st Century  as the era in which MPN diagnostics and therapeutics  left behind the hit-and-miss, guess-and-by-golly traditional clinical practice in favor of precision, molecular based medicine. We are rapidly gaining the capability to identify and correct the genomic anomalies that initiate and drive progression of MPNs.

Late last year, the monumental “Classification and Personalized Prognosis in Myeloproliferative Neoplasm” appeared in the New England Journal of Medicine (Grinfeld, Nangalia et al,, ) MPNforum published a review acknowledging the profound significance of the study.

While “Classification” is primarily a UK effort, other significant MPN genomic studies were published by Vainchenker and Kralovics in Europe, by Ebert, Mullally and Tefferi in the US among many others.  And slowly the new genomic medicine is gaining acceptance.

Against this background, early this year the MPN Genome Study Group surveyed MPN patients in order to create a benchmark against which we can measure progress in the coming decade.  What do patients think about mutational testing? How many of us have actually been tested for a full panel of mutations beyond JAK2? What do our doctors think about ordering such tests?  What difference has such testing made for patients who have results?

The study took place in the March  – May, 2019 period deployed through the Internet and social media with the cooperation of the MPN Research Foundation and MPNforum. There were 1168 responses.  Here are the full graphic results. (Questions requiring lengthy text responses omitted.) The dataset itself is under statistical review by a separate professional group and will be the subject of a future article.  Primary architect of the survey was Zeta Charania, a Canadian based MPN patient.

Note as you review these findings the wide variance in responses.   As in any revolution there are those on the front lines and those late adopters on the sidelines. Of particular concern is the wide gulf between patients and physicians

Your comments and questions are welcome in the space provided at the bottom of this page.



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