In This Issue...
Back to the Future
When this year's Annual Meeting Organizing Committee Chair, Carmen Wiley, PhD, DABCC, began thinking about themes for AACC's 2014 Annual Meeting & Clinical Lab Expo, she looked back in time to see how major events of the past still are influencing lab practice today.
50 years ago, in 1964, the Beatles first landed on American shores, setting of a cultural and musical revolution that still is reverberating. The same is true for laboratory medicine, which experienced its own annus mirabilis in 1964. The Nobel Prize in Physiology or Medicine was awarded that year to Konrad Block and Feodor Lynen for their discoveries involving cholesterol and fatty acid metabolism. That same year, Dorothy Crowfoot Hodgkin received the Nobel Prize in Chemistry for her work determining the structures of biochemical substances, including penicillin and vitamin B12. By 1964, newborn screening for phenylketonuria also was in full swing, thanks to Robert Guthrie's development of a bacterial inhibition assay for PKU using small blood samples from the filter paper cards that still bear his name. Last, but certainly not least for that remarkable year in science, Jerome Horowitz first synthesized azidothymidine (AZT), an antiviral drug still important in treating HIV.
With these achievements as anchors for themes of diagnosing and treating cardiovascular disease, inborn errors of metabolism and infectious diseases, and of assessing nutritional status—all of which still are integral to clinical practice—Wiley also looked to the future. One of the major issues confronting laboratory medicine as we step full stride into the genomic era is dealing with the massive data output from whole genome and whole exome sequencing, which are moving ever closer to everyday clinical practice. This gave Wiley the fifth and final theme for the meeting, managing and analyzing Big Data, which surely will be challenging for decades to come.
Wiley and her able AMOC team members have concentrated the meeting's scientific programming around these five themes. Regardless of where you work—in a reference lab or community hospital, IVD company or governmental agency—or what you do—researcher or bench technologist, lab director or regulator—this year's Annual Meeting & Clinical Lab Expo will give you tools to improve your practice, insights into the emerging science of biomarker measurements, and practical reviews on today's technologies and techniques.
Newborn Screening and Beyond
Today, Kaitlyn Kormanik, a doctoral candidate in human genetics at the University of Pittsburgh, is the epitome of health and intellectual vitality. But that surely would not be the case had she not undergone newborn screening at birth. When she was just 11 days old, Kormanik's parents received the difficult news that she had phenylketonuria (PKU), the first condition that newborn screening programs began testing for 50 years ago. However, rather than watching her slip into the devastating mental decline associated with PKU, Paul and Melanie Kormanik have had the joy of seeing their daughter blossom into a successful, accomplished young woman with a bright future.
"My parents did an amazing job of managing my diet and formula and helping keep my phenylalanine levels controlled," said Kormanik. In a first for AACC's Annual Meeting, she will recount her life story as part of Monday's plenary session on newborn screening for inborn errors of metabolism. Sharing the stage with Kormanik will be Piero Rinaldo, MD, PhD, professor of laboratory medicine and of pediatrics and co-director of the Biochemical Genetics Laboratory at Mayo Clinic in Rochester, Minn.
While acknowledging newborn screening advancements over the last half-century, Rinaldo will focus squarely on future challenges and opportunities in the field. During the past decade, Rinaldo's research has focused on a collaborative initiative, the Region 4 Stork Project (RS4), involving 200 labs in 60 countries that have shared data on more than 16,000 true-positive cases picked up by newborn screening. By accumulating more than 1.2 million data points and by using a multivariate pattern recognition software, Rinaldo and his colleagues have developed a dynamic continuum of normal and disease-specific ranges.
The short-term goal of R4S is to reduce the number of false-positive newborn screening results. However, Rinaldo expects it one day to render obsolete strict analyte-based cutoff values and enable simultaneous rather than sequential algorithms to reach diagnoses quicker not only for newborn screening programs but also many other tests.
How soon will this disruptive technology make its way into clinical practice? Attend this unique session and find out!