On The Spot e-News
Volume 4, Issue 10 | November 2009
In this issue:
- Signature CEO an Ernst & Young Entrepreneur of the Year Award national finalist
- Signature’s Financial Assistance Program
- Characterization of microdeletions and microduplications at 16p11.2
- Diagnosis of Pitt-Hopkins syndrome by array CGH
Signature CEO Named Ernst & Young LLP Entrepreneur Of The Year® Award 2009 National Finalist
Signature President and CEO Lisa G. Shaffer, Ph.D., has been named a national finalist for the Ernst & Young Entrepreneur Of The Year® 2009 Award in Health Sciences. Ernst & Young’s program recognizes outstanding entrepreneurs who are building and leading dynamic, high-growth businesses on a regional, national and global level.
The national award finalists were announced at an awards gala, hosted by Jay Leno, on November 14 in Palm Springs, California. The gala is the culminating event of the Ernst & Young 2009 Strategic Growth Forum, the nation’s most prestigious gathering of high-growth, market-leading companies. This group of outstanding entrepreneurs was selected by an independent judging panel made up of business, community and academic leaders.
Commented Dr. Shaffer, "I am honored to be recognized for our company’s innovative approach to the genetic diagnosis of mental retardation and birth defects. We have grown our company through technical advances that Signature has made in the field of cytogenetics to provide better diagnoses for our patients."
Dr. Shaffer was one of four finalists in the U.S. in the category of Health Sciences.
Signature’s Financial Assistance Program
At Signature Genomics, we understand the financial challenges families face to obtain genetic testing, which is why we have created several options for your patients based on their unique situation.
- New Balance Bill Discount Program
Patients with medical insurance can qualify for discounts off their remaining balances following insurance reimbursement and can arrange for payment plans. - Pre-Pay Discount Program
Patients who want or need to pay out-of-pocket can do so at a discounted price. - Hardship Program
Genetic counselors can request consideration for test funding on behalf of their patients when financial barriers exist. - Preferred Providers
Signature has contracted with several large insurance and managed-care providers such as Humana to make testing even more affordable for patients who have insurance coverage from these organizations.
Signature has also redesigned its requisition forms to reduce paperwork and streamline the order process.
Please call our Financial Assistance Hotline at 877.506.1662 to learn more.
Researchers at Signature Attribute Diverse Spectrum of Neurological Problems to Deletions and Duplications of Region on 16p11.2 Associated with Autism
Researchers at Signature recently characterized a broad spectrum of developmental and behavior problems in individuals with a DNA imbalance at 16p11.2 that has been associated with autism.
Although the causes of autism are not well understood, it has long been established that genetic predisposition is a primary determinant of susceptibility to autism. Recent searches for genetic aberrations in large populations of individuals with autism or an autism spectrum disorder (ASD) have identified missing or extra copies of a small portion of DNA on chromosome 16 in a few of these individuals.
In their study, published in the Journal of Neurodevelopmental Disorders, geneticists at Signature Genomics worked from the other direction, examining the clinical features of 45 individuals with loss of the region on chromosome 16 and 32 individuals with an extra copy of the region, out of 9,773 individuals referred to their laboratory for testing.
Of the 16 individuals with the deletion old enough to be evaluated for autism, all had below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Nine of the 16 individuals had speech and behavior profiles that aroused clinical suspicion of ASD; five had formal evaluations, and three had pervasive developmental delays. The remaining seven individuals had behavior problems that were clearly distinct from ASD, and several were specifically reported to be social without any stereotypic behaviors. A majority of individuals with the duplication had delayed development and/or specific deficits in speech or language, although these features were not as consistent as seen with the deletions of the same region.
Based on these findings, the authors suggested the abnormalities on chromosome 16 are associated with a spectrum of developmental and speech delays and behavioral issues that encompasses autism and other neurological problems.
"Whereas most studies that have implicated DNA imbalances at this region on chromosome 16 have examined populations of individuals with clear indications of autism, we took a unique, genotype-first approach by first identifying individuals in our vast patient database with the same genetic constitution, or genotype, and then examining them for common clinical features. This allowed us to show that abnormalities of this region are not unique to autism but likely play a role in more general neurodevelopmental problems," said Dr. Blake C. Ballif, Ph.D., Director of Product Development and Research at Signature and senior author of the study.
"These promising results should aid diagnosis and research of individuals with abnormalities of this region on chromosome 16."
Researchers at Signature Genomics Diagnose Rare Syndrome in Children with Unexplained Mental Retardation and Birth Defects
Researchers at Signature also recently showed that microarray analysis can identify small DNA alterations in individuals with Pitt-Hopkins syndrome, a rare and poorly characterized genetic disorder.
Children with Pitt-Hopkins syndrome usually have severe mental retardation, characteristic unusual facial features, increased risk for seizures, and may have breathing disturbances which can lead to cyanosis. Although the syndrome has only recently been characterized in depth, researchers know it is caused by the presence of only one functioning copy of the gene TCF4 on chromosome 18, which results when the other copy of the gene is mutated or missing. Previous studies have suggested the clinical features associated with Pitt-Hopkins syndrome are independent of the type of genetic anomaly.
In their study, published in the journal Genetics in Medicine (request a reprint), geneticists at Signature identified seven individuals with a missing copy of a small region on chromosome 18 including TCF4 in their patient. All seven individuals had features consistent with Pitt-Hopkins syndrome, although only three had breathing anomalies, and none had seizures. By comparing their patients with individuals with the syndrome in the scientific literature, the geneticists at Signature determined that, contrary to previous suggestions that the spectrum of clinical features associated with Pitt-Hopkins syndrome was independent of the type of genetic anomaly, individuals with a certain type of gene mutation were more likely to have seizures than individuals with other mutations or deletions.
"Because Pitt-Hopkins syndrome is rare and only recently described in the literature, children with the syndrome may undergo multiple blood draws and expensive evaluations with little chance of diagnosis," said Dr. Lisa G. Shaffer, Ph.D., President and CEO of Signature and senior author of the study. "Our results show that, because microarray analysis can identify chromosome abnormalities in individuals with nonspecific symptoms, such as developmental delay, without the need for clinical suspicion of a specific disorder, it may allow earlier diagnoses for syndromes such as Pitt Hopkins. This allows for better medical management and appropriate surveillance for the development or presence of specific clinical features, such as seizures and hyperventilation."