[CIS PIDD] [cis-pidd] SCID genetic testing?

Tue Sep 30 21:47:15 EDT 2014

Hi Dylan - thanks.  Yes - it is surprising, but the insurance company will make no exceptions and will not even allow me to talk to a physician despite the obvious implications for treatment, and the parents have limited means.  This is a strict policy they have recently adopted.

We are trying to get enzyme testing approved or will try to send at least ADA.

This pt does not currently qualify for the SCID study.  The Center for Mendelian Genetics is a great recommendation - although it would be nice to have testing done in a clinical lab for then convincing insurance to $ for treatment.

Best,

Megan

________________________________
From: Dylan Mordaunt [d.a.mordaunt at gmail.com]
Sent: Tuesday, September 30, 2014 8:35 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] SCID genetic testing?

Dear Megan,

It's surprising that they are unwilling to pay for the genetic testing in this context, given that testing will influence the treatment that they will presumably (hopefully) pay for. Many of the molecular genetic labs have "letters of medical necessity" pre-written for this purpose or will write them (e.g. http://www.aruplab.com/genetics/resources/medical-necessity).

Duke offer testing for ADA-SCID on a research basis- http://www.ncbi.nlm.nih.gov/gtr/tests/319284/laboratory/. Urine purine and pyrimidine analysis should ADA and PNPD also, and is available in many metabolic labs relatively inexpensively.

The NIH looks to be recruiting patients for a SCID natural history study, which appears to include genetic testing (https://www.rarediseasesnetwork.org/PIDTC/studies/6901-SCID.htm). There appears to be a study contact for your centre on the linked page.

Otherwise, the Centre for Mendelian Genetics (http://www.mendelian.org/) collaboration were looking for SCID patients (http://www.mendelian.org/investigated-disorders-0/). It might be worth contacting the investigators (David Valle and James Lupski) to see whether they would be willing to take your patient on.

Despite normal examination, skeletal survey can also be useful to narrow your candidates down.

Kind regards,

Dylan
Clinical and Metabolic Genetics Fellow
South Australian Clinical Genetics Unit

Dylan Mordaunt
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com<mailto:d.a.mordaunt at gmail.com>

On 1 October 2014 10:22, Cooper, Megan <Cooper_M at kids.wustl.edu<mailto:Cooper_M at kids.wustl.edu>> wrote:
Hi Everyone,

I am seeing an infant referred for a positive NBS for SCID.  I have run into a situation where her insurance is completely unwilling to pay for any genetic testing.  I'm wondering if anyone is doing research-based testing or has other ideas about how to obtain further testing.  I'm guessing this has been a problem in other states with NBS. Luckily - she is doing relatively well, proliferation is normal, but she is only 2 months old and her T cells are dropping.  I think further testing (?hypomorphic mutation) would allow for better prediction of her prognosis/need for treatment.

Briefly her clinical picture:
-Near-term, no major complications, eating/growing, normal exam, now almost 2 months old
-low T cells (below) with other normal counts  - although B and NK #s are going down as well
-completely normal proliferation to mitogens
-CD4RTE test at mayo showed elevated CD45RO% (~30%), but normal percentage of CD31+ cells within the CD45RA compartment (84% of CD45RA+ were CD31+)
-Chr 22 and 10 FISH negative, no known midline/cardiac defects.
-HIV PCR negative & maternal HIV negative, Chr 22 and 10 FISH negative.

Counts:

8/26/14:
CD4 - 838
CD8 - 510
CD19 - 1239
CD56/16 - 875

9/29/14
CD4 - 656
CD8 - 316
CD19 - 729
CD56/16 - 632

Normal class I/II expression, nl CD40, T cells largely negative DR

Thanks,

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
(lab office) 314-286-0262
(lab fax) 314-286-2895

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