Can parents and families help professionals in the diagnosis
of genetic conditions? There is ample
material available for the diagnosis of “relatively common” conditions such as
Down syndrome. This however, is not so
in the case of rare disorders. The use
of social media in identifying additional cases
with rare mutations is illustrated in the article by parents of two
patients with mutations in the enzyme N-glycanase 1 (NGLY1) (REF: Might , M and Wilsey, M The shifting model in clinical diagnostics:
how next-generation sequencing and families are altering the way rare diseases
are discovered, studied, and treated.
Genetics in Medicine 16:736-737, 2014.
http://www.nature.com/gim/journal/v16/n10/pdf/gim201423a.pdf). In this
article the authors used social media to help identify additional patients with
the mutation detected by whole-genome, whole-exome or standard Sanger sequencing. Patients were linked together after parents,
physicians, or scientists working on isolated cases searched online for “NGLY1.”
They found a blog post describing the disorder written by the parents of the
first confirmed patient (http://matt.might.net/articles/my-sonskiller).
The following points are quoted from the article:
• Share early, share
often. Collaborate across institutions, disciplines, patients, and parents. We
recognize that this is easier said than done, but it is essential. Share data. Share
negative results. For findings too small to be publishable, turn to the Web and
publish them in short blog posts. Get the information out there. When Stanford
and Baylor did whole-genome sequencing in the Fall of 2011 on an NGLY1 patient,
they produced eight candidate genes (including NGLY1) to explain the phenotype.
Stanford and Baylor shared their list of variant candidates quickly. It was a
dialogue with clinicians, other researchers, parents, and bioinformatics
experts. The teams triaged the list and worked systematically to close certain
doors. Stanford and Baylor initially thought another gene was the main culprit,
but functional work did not support this. Both teams continued to refine until
NGLY1 was confirmed via functional assays. The lesson is that genetics is an
iterative process.
• Balance the
bottom-up with the top-down. We recognize that much of science happens
“bottom-up,” with open ended investigations uncovering basic truths. Balance
this approach with “top-down,” measurable goals that are grounded in patient’s
needs. We know science takes random turns and there will be setbacks and
pitfalls, but no successful business has been built without measurable goals
and targeted objectives. Strike a balance.
• Move fast and break
things. This motto is common in Silicon Valley, but has been popularized by
Facebook CEO Mark Zuckerberg. Genetics, like any branch of medicine, is justly
conservative when it comes to patients (“Do no harm”). We do not suggest that
you should be less thorough or loosen protocols. We simply suggest that you
take risks to make discoveries, even if ideas or assays fail along the way.
Failure is good. We can all build upon those failures if we share.
The authors conclude with the following:
In order to diagnose
patients, we must admit the limitations of our medical knowledge. Sometimes the
best ideas come from individuals “outside the box” (i.e., patients and
parents). Pay special attention to the smallest details (e.g., lack of tear
production); sometimes the least likely gene candidate is the answer. Last but not
least, thank you. What you do is truly remarkable. When you have a bad day in
the clinic or the laboratory, please remember that there are patients and
parents out there who you do not know and who are dreaming of finding you,
supporting you, and counting on you.
Can a similar scenario operate in the diagnosis of genetic
disorders in a healthcare system in which there is a dearth of trained
professionals required for the diagnosis of genetic disorders? Could social media help to identify healthcare
professionals in an healthcare system who can help in the process of diagnosis
and management? One would think so.
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