On The Spot e-News
Volume 3, Issue 7 | August 2008
In this issue:
- Congresswoman McMorris Rodgers Tours Signature
- Study Shows Diagnostic Yield of Microarray Technology in Prenatal and Neonatal Populations
- Signature Announces 2009 Microarray Conference
Congresswoman McMorris Rodgers Tours Signature
On August 11, Congresswoman Cathy McMorris Rodgers, a member of the U.S. House of Representatives representing the state of Washington’s Fifth Congressional District, visited Signature Genomic Laboratories. McMorris Rodgers, who is serving her second term in Congress, toured Signature’s new 18,000-square-foot Spokane headquarters and laboratory and then participated in a town-hall-style meeting with Signature employees.
Congresswoman McMorris Rodgers (center) with Signature co-founders Lisa G. Shaffer and Bassem A. Bejjani
McMorris Rodgers has a personal connection to children with chromosome abnormalities: her son Cole was diagnosed at birth with Down syndrome.
"The groundbreaking work of the employees at Signature Genomics is exciting," McMorris Rodgers said. "It is particularly important research for those individuals and families impacted by chromosomal abnormalities. Having been personally touched by Down syndrome with the birth of our son, Cole, it’s life changing to have access to timely information and to connect with others experiencing the same challenges. My husband Brian and I are thankful for those connections and support of people brought together because of disabilities."
In May, shortly after Cole’s 1st birthday, McMorris Rodgers helped launch the bipartisan Congressional Down Syndrome Caucus, which she co-chairs. The mission of the Caucus is to raise awareness of and support funding for Down syndrome research, education and treatment and promote public policies to ensure a high quality of life for individuals with Down syndrome.
"We are honored to host a member of the U.S. Congress at Signature, and grateful that we have Congresswoman McMorris Rodgers as an advocate in Washington D.C for the families we serve with genetic disorders" said Dr. Lisa G. Shaffer, Ph.D. President and CEO of Signature.
Dr. Bassem A. Bejjani, M.D., Chief Medical Officer of Signature, said, "We are very excited that Congresswoman McMorris Rogers visited Signature. She has an unique perspective on the work we do and is very sensitive to the needs of families who benefit from the diagnostic services we offer. Her work on health care and education are outstanding, and her launching the Congressional Down Syndrome Caucus makes her a true advocate of people with Down Syndrome and will benefit all individuals with chromosomal abnormalities for whom we care."
Study Shows Diagnostic Yield of Microarray Technology in Prenatal and Neonatal Populations
Researchers at Signature Genomic Laboratories recently published the first large-scale prospective study comparing the detection rate of chromosomal abnormalities by microarray analysis in prenatal cases to that of neonatal cases referred with a variety of clinical findings, including congenital anomalies.
In the study, the findings of which will appear in the September issue of the journal Prenatal Diagnosis and were electronically published July 22 (request a reprint), microarray analysis was performed on 151 prenatal specimens and 1375 postnatal specimens less than 3 months of age using the PrenatalChip® or SignatureChip® microarray, respectively. A clinically significant chromosome abnormality was detected in 11.4% of the neonates that had previous normal chromosome analysis or no chromosome analysis performed. In the prenatal population, abnormalities were detected in 1.3% of cases. However, the authors suggested this detection rate may be the result of an ascertainment bias because all prenatal cases had previous normal chromosome analysis, whereas only 12% of neonates had a previous normal chromosome analysis. In addition, almost half of the neonatal population was referred for dysmorphic features, a clinical indication unlikely to be identified in the prenatal population.
"Our results demonstrate the detection rate of causative chromosome abnormalities in infants with birth defects of unknown cause is more than three times that routine chromosome analysis, which is the current standard diagnostic tool," said Dr. Lisa G. Shaffer, Ph.D., President and CEO of Signature and lead author of the study. "In addition, although we detected chromosome abnormalities in only 1.3% of prenatal cases, the majority of abnormalities in the neonates would not have been identified by routine chromosome analysis, suggesting that widespread use of microarary analysis for prenatal diagnosis would yield higher detection rates than routine karyotyping."
Signature Announces 2009 Microarray Conference
Signature Genomic Laboratories announced its 2009 Scientific Microarray Conference will be held June 19-20, 2009 in Spokane.
The only event of its kind in the United States, the Scientific Microarray Conference brings together medical professionals who use Signature’s microarray diagnostic technology in their practices for a weekend of discussion about the clinical applications of this technology. To foster an intimate environment for the free sharing of information, conference attendance has been capped at 100 registrants.
For the inaugural Scientific Microarray Conference, held June 20-21, 2008, 46 Signature clients traveled to Spokane from as far as Qatar. Over the course of two days, attendees listened to keynote speakers John M. Graham, MD, of Cedars-Sinai Hospital; Michael Shevell, MD, of Montreal Children’s Hospital; and David D. Weaver, MD of Indiana University and their colleagues present their experience with microarrays. Attendees also had the opportunity to demo Signature’s proprietary Genoglyphix® microarray analysis display tool and tour Signature’s new 18,000-square-foot facility. Thirty-three Signature employees were available to answer questions, and five exhibitors displayed their products. Tours of local wineries, golf outings and walking tours of Spokane entertained attendees after hours.
"We owe the success of our first Scientific Microarray Conference to the attendees, who engaged in lively, thoughtful discussion of microarray technology," said Dr. Lisa G. Shaffer. "With our attendees’ input, we hope to build upon that success for next year’s conference."