American Association for Clinical Chemistry
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Expo Issue 2011: The Genetic Testing Revolution

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Expo Issue 2011

The Genetic Testing Revolution
Symposium Features Fast-advancing Technology Full of Promise, Challenges

By Genna Rollins

The fast-changing field of molecular diagnostics is poised to revolutionize patient care, and with it lab and clinical practice. Exciting advances such as next generation (massively parallel) sequencing, circulating cell-free fetal nucleic acid analysis, array comparative genomic hybridization, microRNA analysis, and other emerging types of genetic testing will challenge labs not only to keep up with the technologies themselves, but also a host of implementation issues.

Today’s full day symposium, New Analytes, New Methods: What’s Next in Genetic Testing, which starts at 10:30 a.m. in Room B206 of the Georgia World Congress Center, will give attendees a bird’s eye view of both the power and promise of genetic testing and the complex issues surrounding it. These topics, combined with a first-rate panel of experts, make for a not-to-be-missed session, according to moderator, Linnea Baudhuin, PhD, DABMG, co-director of cardiovascular laboratory medicine and the nucleotide polymorphism laboratory at the Mayo Clinic in Rochester, Minn.

“All of the speakers are experts and leaders in the topics they’ll be addressing. I’m excited to have them and expect that attendees will learn a lot,” she said. “This symposium really appeals to a broad audience, and I hope it will help individuals understand the basics and beyond of these emerging technologies.”

The session was developed in cooperation with both the Society for Young Clinical Laboratorians and the Molecular Pathology Division in recognition of the growing importance of genetic testing, according to Baudhuin. “Both groups are supporting this because of all the new technologies that have come out and their applications in genetic testing and potential to revolutionize clinical laboratory medicine,” she said.

Major Changes Coming

Baudhuin emphasized that the genomic age is poised to revolutionize both laboratory and medical practice. “These technological advances have allowed us to evaluate the entire human genome at a fraction of the time and cost that it took in the past. This will create opportunities for more optimal diagnosis and therapeutic strategies, and we’ll also have more information to better stratify complex conditions like coronary artery disease,” she explained. “These technologies also will help open the door to further gene discoveries, and because they’re high-throughput, they’ll hopefully drive down the cost of what we’re charging for our traditional technologies. In the case of circulating cell-free fetal DNA analysis, we’ll have less invasive methods of obtaining samples, which may make patients more receptive to these kinds of tests.”

The Interpretation Challenge

Laboratory professionals should learn about and anticipate being involved in similar ground-breaking efforts in the near future, but both Baudhuin and panelist Timothy Uphoff, PhD, cautioned that many challenges lay ahead before such advances are widely adopted. “A lot of what we struggle with clinically is when we encounter a genetic variant we haven’t seen before, that’s, for example, a missense change or change in amino acids. Often, we don’t know what to make of it, because we don’t know if it’s disease-causing or if it’s just something benign that occurs in a small percentage of individuals with this genetic background,” explained Baudhuin.

Uphoff, who is section head of the molecular pathology laboratory at Marshfield Labs in Marshfield, Wisc., emphasized that this new wealth of information would require considerable education of laboratorians, patients, and even physicians. “One of the obstacles going forward will be information overload and the bottleneck in interpretation. We can easily generate a lot of data, but the trick is making it useful to clinicians,” he said. “Most doctors are behind-the-curve on genetic testing, so first of all we have to enable them to understand the data. Then we need to make it patient-centered as well. Most patients understand what their cholesterol numbers mean now but they won’t necessarily recognize what their genetic data means.”

During the symposium, Uphoff plans to give an overview of the field, with an eye on key trends and challenges. Other panelists will give detailed presentations on specific genetic testing technologies. Matthew Ferber, PhD, will discuss the promises and pitfalls of next generation sequencing, Daniel Farkas, PhD, will speak about circulating, cell free, fetal nucleic acids as a clinical investigative tool, while Erik Thorland, PhD, will analyze what the field has learned so far from chromosomal microarray and copy number variations. Panelist Anna Schwarzback, PhD, will look at the development, validation, and implementation of microRNA-based lab-developed tests.

Will Laws Hold Back Dissemination?

Uphoff reflected on how quickly genetic testing is being deployed. The Human Genome Project’s first-ever whole genome sequence took years and cost about $2.7 billion. Now, a whole genome sequence can be completed in a matter of weeks for as little as $15,000, including sophisticated bioinformatics analysis. He believes this will be the year when some scientific team claims the $10 million Archon Genomics X PRIZE, a competitive award being offered to the first team to sequence 100 human genomes within 10 days for $10,000 or less per genome with an accuracy of no more than one error in every 100,000 bases sequenced (

However, Uphoff cautioned that even as the technology is advancing at such a fast clip, unsettled law and regulations could slow its dissemination. “The Food and Drug Administration’s ongoing discussions about oversight of lab-developed tests and the direct-to-consumer marketing of genetic tests will be something to keep an eye on,” he indicated. “Another challenge will be the patentability of genes. That’s an issue working its way through the courts now, and it’s unclear how it’ll be resolved, though I intend to take a stand and argue against it during my presentation.”

Jumping Ahead: The Impact of Genomics

Uphoff also predicted that lab practice will change significantly as genomic technology disseminates. “Labs that are doing single gene sequencing may not be able to keep up. It may be that for a time there will be a gap where the newest technologies are restricted to referral labs with the infrastructure to perform these types of tests cost-effectively,” he said. “There’s no doubt it’ll come to smaller labs, but I believe there’ll be a five-to-eight year gap before it does.”

In addition, labs will be challenged to manage genetic testing costs and work with physicians to make the best use of the technology. “For labs that won’t have the latest sequencing technology available, it’ll become the biggest part of our send-out inventory. So if I’m in a clinical lab, a big issue will be, how do I govern and help clinicians make judicial use of this technology, because this type of technology could quickly overtake my send-out budget,” he cautioned. “Labs will need to step-in and not be the gatekeeper, but provide good, authoritative guidance in the use of this technology. We have to be good stewards of this incredible resource.”

The Symposium panel’s insights into technologies that are both rapidly changing and disseminating, coupled with complicated implementation challenges should make for a lively, intriguing discussion, and a great introduction to genetic testing, according to Uphoff. “For people who might be starting with little background in the area, they’re going to come away with an excellent knowledge of cutting edge technology.”

Genetic Testing Symposium 
Topics and Presenters

10:30 a.m. 
Room B206, Georgia World Congress Center

New Analytes/New Methods: 
What's Next in Genetic Testing
Moderator: Linnea Baudhuin, PhD, 
Mayo Clinic, Rochester, Minn.

An Introduction To and 
Hot Topics in Molecular Genetics: 
5’ to 3’ in Forty Minutes

Timothy Uphoff, PhD, DABMG, 
Marshfield Clinic Laboratory, Wisc.

Next Generation Sequencing: 
Promises and Pitfalls for the Clinical Lab

Matthew Ferber, PhD, FACMG, 
Mayo Clinic, Rochester, Minn.

Circulating, Cell Free, Fetal 
Nucleic Acids as an Object of 
Clinical Laboratory Investigation

Daniel Farkas, PhD, HCLD, FACB, 
Center for Molecular Medicine, 
Grand Rapids, Mich.

What Have We Learned from 
Chromosomal Microarray and 
Copy Number Variation?

Erik Thorland, PhD, 
Mayo Clinic, Rochester, Minn.

Development, Validation, and 
Implementation of MicroRNA-Based 
Laboratory Developed Tests
Anna Schwarzbach, MS, PhD, 
Asuragen, Inc., Austin, Texas