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BIDMC Researchers Identify Possible Biomarker for Parkinson’s Disease

Although Parkinson’s disease is the second most prevalent neurodegenerative disorder in the U.S., there are no standard clinical tests available to identify this widespread condition. As a result, Parkinson’s disease often goes unrecognized until late in its progression, when the brain’s affected neurons have already been destroyed and telltale motor symptoms such as tremor and rigidity have already appeared.

Mount Sinai Launches First-ever Genetic Testing Program in the Primary Care Setting

The Icahn School of Medicine at Mount Sinai is partnering with the Institute for Family Health to launch the first-ever genetic testing program in the primary care setting to identify genetic risk for kidney disease in patients with hypertension.

The program will be funded through a $3.7 million grant from the National Human Genome Research Institute of the National Institutes of Health. Primary-care providers will use patients’ genomic information at the point-of-care to individualize treatment, testing and monitoring with Mount Sinai’s Clinical Implementation of Personalized Medicine through Electronic Health Records and Genomic Program, or CLIPMERGE, a novel clinical-decision support engine for delivering guidelines with genetic variants of clinical significance to enhance treatment.

Recent research has shown that one in eight African Americans have two copies of a version of the APOL1 gene, putting them at four to five times greater risk for developing chronic kidney disease or end-stage kidney disease if they have hypertension, or high blood pressure.

“Many patients do not have their blood pressure adequately controlled,” said Erwin Bottinger, MD, Director of the Charles Bronfman Institute for Personalized Medicine at the Icahn School of Medicine at Mount Sinai, and one of two principal investigators of the grant. “We believe that with genomic information made available to doctors through a patient’s electronic health record, we will be able to achieve better and stricter control of blood pressure and targeted use of medications that inhibit the renin angiotensin system, which are recommended in hypertensive patients at risk for kidney disease. More comprehensive tracking will also help ensure that optimal tests will be performed to stop progression of kidney disease.”

A cluster-randomized controlled trial will be conducted at 12 primary care sites in New York, including practices at The Mount Sinai Medical Center and the Institute for Family Health, which operates an independent network of community health centers in Manhattan and the Bronx.

“Genes are another piece of the puzzle that may help explain why people of African descent have poorer health outcomes than people of European descent,” said Carol Horowitz, MD, MPH, co-principal investigator and co-director of the Icahn School of Medicine at Mount Sinai’s new Center for Health Equity and Community Engaged Research. “We look forward to engaging with and helping educate our multicultural community partners, providers, and patients about the emerging role genetic testing will play in improving health.”

Neil Calman, MD, President and Chief Executive Officer of the Institute for Family Health, and Professor and Chair of Family Medicine and Community Health at Mount Sinai said, “Community-based primary care physicians have had little opportunity to incorporate genomics into the care of patients, and this grant offers us a tremendous opportunity. We hope to screen patients, identify those with increased genetic risk and work with them to prevent kidney disease. We will also train community-based primary care providers in how to discuss genetic risk with patients and their families and how to use genetic-based information in the electronic health record.”

Source: EurekAlert!

PerkinElmer Expands Prenatal Screening Test Offerings, Introducing First Early Onset Preeclampsia Screening Test in the U.S.

PerkinElmer, a global leader in human and environmental health and an innovator in the field of prenatal screening for more than thirty years, announced today the first available early onset preeclampsia screening test in the United States. The PreeclampsiaScreen™ | T1 serum screening test enables physicians to more precisely detect asymptomatic patients in the first trimester of pregnancy who are at high risk for developing the dangerous condition, allowing for earlier identification, management and intervention. Early onset preeclampsia is a potentially serious condition that affects 0.5% of all pregnancies, often contributing more to the pregnant mother’s and baby’s risks of morbidity and mortality than does the late form of the disorder.

“This first of its kind screen is our latest commitment to providing clinicians with new, innovative ways to address some of today’s most challenging prenatal clinical scenarios,” said Jim Corbett, Senior Vice President and President, Diagnostics and Life Sciences & Technology for PerkinElmer. “Together with our recent advances, including offering a non-invasive prenatal test based on cell-free fetal DNA, plus a wide range of prenatal testing from biochemical screening to SNP microarray testing to detect birth defects and chromosome abnormalities, we’re giving physicians effective new tools for patient management.”

According to Dr. Jiri Sonek, MD RDMS, President, Fetal Medicine Foundation USA, and Adjunct Professor, Department of Obstetrics and Gynecology from Wright State University, “Preeclampsia is one of the remaining great challenges in obstetrics. It is a major cause of maternal, fetal, and neonatal morbidity and mortality. Fortunately, some physicians may recommend a simple and inexpensive intervention to reduce the risk of preeclampsia which is available in the form of low-dose aspirin. However, this treatment is effective only if begun early in pregnancy. That is why first trimester screening is such a critical component of preeclampsia prevention.”

Early onset preeclampsia is defined as preeclampsia, a sudden increase in blood pressure and protein in the urine, which leads to delivery of the fetus prior to 34 weeks’ gestation. If found early, options such as increased monitoring, modified activity, bed rest and medication can help reduce or avoid complications related to early onset preeclampsia.

PreeclampsiaScreen™ | T1 is administered during the first trimester of pregnancy through a simple blood test to detect three biochemical markers in the mother’s blood: PAPP-A (pregnancy-associated plasma protein-A); PlGF (placental growth factor) and AFP (alpha fetoprotein) that, when evaluated collectively with personal demographic data, provide an individual risk of developing early onset preeclampsia. Physicians have the option to provide two additional biophysical measurements for their patients — mean arterial pressure (MAP) and uterine artery Doppler pulsatility index (UtAD-PI) – each increasing the sensitivity of the screen when included in the testing protocol.

Source: PerkinElmer

New Test Assesses Gestational Diabetes Risk Early in Pregnancy

Levels of a biomarker in a pregnant woman’s blood can help physicians gauge her risk of developing gestational diabetes during the first trimester, according to a recent study accepted for publication in The Endocrine Society’s Journal of Clinical Endocrinology & Metabolism (JCEM).

Gestational diabetes is a form of diabetes that can develop during pregnancy, often during the second trimester. The condition causes glucose levels in the bloodstream to be higher than normal. Early diagnosis and treatment can help the woman manage the condition. If left untreated, high blood glucose in the mother increases the risk of jaundice, breathing and hypoglycemia problems in the newborn. Uncontrolled gestational diabetes also can increase the risk of premature delivery and preeclampsia, or pregnancy-induced high blood pressure.

“Although it is important to quickly intervene in cases of gestational diabetes, often only women who have risk factors like a family history or obesity are screened early in pregnancy,” said one of the study’s authors, Atsuhiro Ichihara, MD, PhD, of Tokyo Women’s Medical University. “Women who don’t have the traditional risk factors may not be diagnosed until the second trimester. The method identified in this study offers every pregnant woman the opportunity to know her risk early on.”

The prospective cohort study tested the blood of 716 pregnant women during the first trimester to measure their levels of the soluble (pro)renin receptor, or s(P)RR. Of the participants, 44 women developed gestational diabetes.

Researchers found pregnant women with elevated s(P)RR levels were more likely to be diagnosed with gestational diabetes. Women who had the highest s(P)RR levels were 2.9 times more likely to develop gestational diabetes than women who had the lowest levels.

“In addition to gestational diabetes, recent studies have found elevated s(P)RR levels are associated with the birth of larger babies and high blood pressure in late pregnancy,” Ichihara said. “The evidence suggests the biomarker is important in the interaction between mother and fetus during pregnancy.”

Source: Prediction of Gestational Diabetes Mellitus by Soluble (Pro)Renin Receptor during the First Trimester

Source: EurekAlert!

Coming Soon to a Doctor Near You? A Simple Test Can Tell if You’re Likely to Develop Hypertension in the Future

Critical Diagnostics announced recently that the Journal of Hypertension published a study titled, “Soluble ST2 Predicts Elevated SBP in the Community.” The results showed that a cohort of ostensibly healthy individuals, except for the presence of high levels of the biomarker ST2 in their blood, were almost twice as likely to develop hypertension in the future than those with low ST2 levels.

The implications of this finding are enormous. With this knowledge in hand, one day physicians may be able to offer their patients tailored treatment options as part of a preventative approach to medicine that could delay or even forestall the onset of hypertension entirely.

Hypertension, commonly referred to as high blood pressure, is a serious medical condition, affecting one out of every three adults over the age of 18 years. Hypertension is the leading risk factor for the development of heart failure. Men with high blood pressure are two times as likely to advance to heart failure, and for women with high blood pressure, the risk is three fold.

In 1948, the Framingham Heart Study – under the direction of the National Heart Institute (now known as the National Heart, Lung, and Blood Institute) embarked on an ambitious project to identify causes of heart disease and stroke, about which little was known at the time. The researchers recruited 5,209 men and women between the ages of 30 and 62 from the town of Framingham, Massachusetts, and began the first round of extensive physical examinations and lifestyle interviews that they would later analyze for common patterns related to cardiovascular disease development. In 1971, the Study enrolled a second generation – 5,124 of the original participants’ adult children and their spouses – to participate in similar examinations.

Study investigators evaluated 1,834 individuals from this Framingham Offspring Study Cohort to determine the predictive utility of ST2. The participants were followed over a period of three years. The results illustrated that those subjects whose ST2 level was elevated had a significantly greater chance of becoming hypertensive.

In numerous peer-reviewed publications, elevated concentrations of ST2 have been shown again and again to be associated with a worse prognosis and adverse disease progression in patients with heart failure. Moreover, in a recent publication involving the same Framingham cohort, ST2 identified those otherwise healthy individuals with the highest risk of developing heart failure as much as 10 years before the presence of any symptoms. In fact, ST2 was, by far, the most predictive of any biomarker tested.

“The encouraging data in this recent study highlights the clinical utility of ST2 beyond the management of heart failure,” notes David Geliebter, CEO of Critical Diagnostics. “The findings are profound and again support the potential role of ST2 in primary disease prevention, as it allows for the early identification of risk for cardiovascular disease in apparently healthy individuals which presently goes undetected until they are symptomatic, which is far too late.”

“ST2 is emerging as an important mediator of ventricular remodeling, as well as a valuable prognostic marker in cardiovascular disease,” state the authors. “Our findings support a robust link between sST2 and multiple [blood pressure] measures.”

“Critical Diagnostics’ primary objective is to leverage the scientific and clinical evidence in these types of studies,” adds James Snider, President of Critical Diagnostics, “and ultimately pursue additional clearances for use of ST2 in these varied clinical settings to improve health and the costly management associated with cardiovascular diseases.”

Study: Soluble ST2 Predicts Elevated SBP in the Community

Source: Critical Diagnostics