APHL 2019: Strong foundations lead to new heights

By April 26, 2019

It was to be my third outing to the Association of Public Health Laboratories (APHL) Newborn Screening and Genetic Testing Symposium (NBSGTS), this being the 27th meeting of its kind, bringing some 500 members of the screening and genetics community to the jewel of Lake Michigan, The Windy City, The City With Big Shoulders, Chi-Town: Chicago, Illinois.

It was early springtime, and the impressive Chicago skyline seemed to be shaking off one of the coldest winters in recent memory; stretching itself outwards and upwards, to the (occasionally) sunny, blue skies. This imagery was nicely reflected in the theme of the symposium: Strong Foundations Lead to New Heights.

This optimism was carried through into the exhibition space, where we found ourselves nestled up next to several other workflow vendors, many of whom were thrilled to see Waters presence on the floor with the RenataDX Screening System. We heard from the team at Newborn Screening Ontario in Ottawa how they have redesigned their screening information management system to take a more patient-centric, longitudinal approach with OMNI-Lab NBS from Integrated Software Solutions. The implementation is described in detail in the International Journal of Neonatal Screening. And we hope you were able to get to know us better at the infamous Meet the Manufacturer session.

On the first day of the meeting, I eagerly poured over the final program to shortlist my “Must See” posters, but I soon gave up. There would be no shortlist – only a long list. So many topics of interest, from the piloting of screening programs in New Jersey, to the piloting of drones to deliver specimens in North Carolina. There was much to choose from. I put down my red pen, stopped circling titles in the program, and decided I would simply have to view them all. Apologies in advance if you were a corresponding author – I’m probably going to be emailing you with compliments, comments and questions. Bear with me.

I strolled through the extensive poster hall, impressed, as ever, by the quality of work on show. I am always slightly humbled by the ability of scientists working in routine labs to find the time to create laboratory developed tests. Having worked in the United Kingdom National Health Service before joining Waters, I know that it’s easier said than done. Getting time on an instrument is a challenge. We don’t all have a bottomless research budget for column-scouting. Which is probably why so many of you click through to our Waters Corporation YouTube channel for easy to navigate how-to and hints-and-tips videos, to make method development as efficient as possible.

The long-held scientist-crush I have on the Centers for Disease Control and Prevention Newborn Screening and Molecular Biology Branch blossomed into full-blown love, the second I set eyes on P-036 ‘A universal second-tier screening assay for the detection of maple syrup urine disease, methylmalonic acidemia, propionic acidemia, homocystinuria, and guanidinomethyltransferase deficiency via derivatized LC-MS/MS’. I was left breathless (after having read the title out loud several times). Dizzily, I stumbled into P-061 ‘Development of a universal, second-tier newborn screening LC-MS/MS method for the simultaneous analysis of underivatized amino acids, acylcarntines, organic acids and steroids. I was confused. I thought I wanted derivatization. Now, I wasn’t so sure. Drs. Platis, Asef and Petritis, you lured us in with your talk of proprietary HILIC columns, and mysterious secret ingredients of ‘Salt Additive’ and ‘Acid Additives’ 1 and 2. Tell us more! I guess we’ll just have to wait for peer-review publication…I will be waiting by the telephone (email inbox) for your call (Table of Contents alert). Don’t be a stranger.

I came away from the meeting knowing that by being a leader in separations science and mass spectrometry, Waters has helped laboratories forge the strong foundations we learned about over the week. Seeing the offerings from vendors beyond LC-MS/MS, I am reassured we have a strong, and cooperative network around us to allow laboratories to break off their shackles, open up their workflow option, and to reach innovative, new heights.



Read more about mass spectrometry-based newborn screening:

Categories: Clinical