Category Archives: Transhuman News

Human Genetics Lab Part 3 Vid
Color-blindness.

By: Laura Anna See

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Human Genetics Lab Part 3 Vid - Video

BETHESDA, MD, USA and VIENNA, AUSTRIA - Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus. The document addresses the current scope of and likely future improvements in NIPT technology, ways it may best fit with existing prenatal screening tools and protocols, options and priorities in its implementation, and associated social and ethical issues.

The statement, drafted by the Social Issues Committee of the American Society of Human Genetics (ASHG) and the Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), was published online March 18 in the European Journal of Human Genetics.

Current prenatal screening protocols for common structural abnormalities in the chromosomes vary among countries and medical practices. Generally, though, pregnant women are offered a combined first-trimester screening (cFTS), a risk assessment test based on blood and ultrasound markers. Women who receive abnormal cFTS results undergo a second step of testing to confirm or deny whether the fetus has an abnormality such as Down syndrome. This second step involves invasive procedures, such as amniocentesis, that in 0.5-1% of cases may lead to a miscarriage.

One important drawback of cFTS is the high rate of false alarms that lead to invasive procedures that put pregnancies at risk when the fetus is actually chromosomally normal. The main benefit of NIPT, apart from a significantly higher detection rate, is that it dramatically lowers the false alarm rate from about 5% to about 0.2%, making prenatal screening more accurate and safe. This is achieved by analyzing fragments of DNA in maternal blood, some of which provides information about the fetus. The fact that this 'fetal DNA' actually derives from the placenta is one reason why NIPT is not fully reliable. An important implication of this is that women who receive an abnormal NIPT result should still be advised to confirm this result through a second step of testing if they are considering a termination of pregnancy, the statement authors write.

The authors explored the benefits and drawbacks of various ways to implement NIPT, such as adding it to the current two-step process or using it to replace cFTS. As NIPT is significantly more expensive, the cost per test would need to be reduced considerably for the latter option to be feasible in fully funded prenatal screening programs, they noted. They also considered implications of the technology, including pressures on women to undergo the test and act upon the results, and the loss of ultrasound data that would indicate fetal problems if that step is removed from the screening process.

"Throughout our discussion, we kept in mind that the goal of prenatal screening is to enable autonomous, informed reproductive choices by pregnant women and their partners, not to prevent the birth of children with specific abnormalities," said Yvonne Bombard, PhD, 2014 chair of the ASHG Social Issues Committee.

The two committees also addressed emerging advances in NIPT technology that would allow testing for additional genetic conditions, such as rare microdeletion syndromes and syndromes that interfere with sexual development. They noted that as NIPT grows to include more conditions - producing results of varying certainty - pre-test genetic counseling will become significantly more complex.

"Although there is no convincing ethical reason to limit NIPT to Down syndrome and a few other chromosomal abnormalities, we are concerned about prematurely expanding NIPT to include rare conditions for which the test may not be sufficiently validated, or of which the clinical implications may not be fully understood. For example, parents-to-be will have to make difficult choices about how to act upon abnormal results for such conditions," said Wybo Dondorp, PhD, first author of the statement.

"A related concern about prematurely expanding the scope of the test is that it will reverse the significant decrease in false alarms and subsequent need for follow-up diagnostic procedures, which has been regarded as the main gain of NIPT in prenatal screening", said Diana Bianchi, MD, a member of the ASHG Social Issues Committee and co-author on the statement.

The statement authors also considered the longer-term question of how extensive prenatal genetic screening should be, and emphasized the role of infrastructure in enabling responsible use of NIPT. Priorities included educating health professionals and the public about its benefits and limitations, promoting equal access despite cost issues, controlling the quality of pre-test counseling and laboratory practices, and systematically evaluating the whole process. In all, the two committees published ten recommendations for the broader implementation of NIPT, including suggested next steps.

Link:
ASHG and ESHG issue position statement on non-invasive prenatal screening

Two of the world's largest professional societies of human geneticists have issued a joint position statement on the promise and challenges of non-invasive prenatal testing (NIPT), a new procedure to test blood drawn from pregnant mothers for Down syndrome and other chromosomal disorders in the fetus. The document addresses the current scope of and likely future improvements in NIPT technology, ways it may best fit with existing prenatal screening tools and protocols, options and priorities in its implementation, and associated social and ethical issues.

The statement, drafted by the Social Issues Committee of the American Society of Human Genetics (ASHG) and the Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), was published online March 18 in the European Journal of Human Genetics.

Current prenatal screening protocols for common structural abnormalities in the chromosomes vary among countries and medical practices. Generally, though, pregnant women are offered a combined first-trimester screening (cFTS), a risk assessment test based on blood and ultrasound markers. Women who receive abnormal cFTS results undergo a second step of testing to confirm or deny whether the fetus has an abnormality such as Down syndrome. This second step involves invasive procedures, such as amniocentesis, that in 0.5-1% of cases may lead to a miscarriage.

One important drawback of cFTS is the high rate of false alarms that lead to invasive procedures that put pregnancies at risk when the fetus is actually chromosomally normal. The main benefit of NIPT, apart from a significantly higher detection rate, is that it dramatically lowers the false alarm rate from about 5% to about 0.2%, making prenatal screening more accurate and safe. This is achieved by analyzing fragments of DNA in maternal blood, some of which provides information about the fetus. The fact that this 'fetal DNA' actually derives from the placenta is one reason why NIPT is not fully reliable. An important implication of this is that women who receive an abnormal NIPT result should still be advised to confirm this result through a second step of testing if they are considering a termination of pregnancy, the statement authors write.

The authors explored the benefits and drawbacks of various ways to implement NIPT, such as adding it to the current two-step process or using it to replace cFTS. As NIPT is significantly more expensive, the cost per test would need to be reduced considerably for the latter option to be feasible in fully funded prenatal screening programs, they noted. They also considered implications of the technology, including pressures on women to undergo the test and act upon the results, and the loss of ultrasound data that would indicate fetal problems if that step is removed from the screening process.

"Throughout our discussion, we kept in mind that the goal of prenatal screening is to enable autonomous, informed reproductive choices by pregnant women and their partners, not to prevent the birth of children with specific abnormalities," said Yvonne Bombard, PhD, 2014 chair of the ASHG Social Issues Committee.

The two committees also addressed emerging advances in NIPT technology that would allow testing for additional genetic conditions, such as rare microdeletion syndromes and syndromes that interfere with sexual development. They noted that as NIPT grows to include more conditions -- producing results of varying certainty -- pre-test genetic counseling will become significantly more complex.

"Although there is no convincing ethical reason to limit NIPT to Down syndrome and a few other chromosomal abnormalities, we are concerned about prematurely expanding NIPT to include rare conditions for which the test may not be sufficiently validated, or of which the clinical implications may not be fully understood. For example, parents-to-be will have to make difficult choices about how to act upon abnormal results for such conditions," said Wybo Dondorp, PhD, first author of the statement.

"A related concern about prematurely expanding the scope of the test is that it will reverse the significant decrease in false alarms and subsequent need for follow-up diagnostic procedures, which has been regarded as the main gain of NIPT in prenatal screening," said Diana Bianchi, MD, a member of the ASHG Social Issues Committee and co-author on the statement.

The statement authors also considered the longer-term question of how extensive prenatal genetic screening should be, and emphasized the role of infrastructure in enabling responsible use of NIPT. Priorities included educating health professionals and the public about its benefits and limitations, promoting equal access despite cost issues, controlling the quality of pre-test counseling and laboratory practices, and systematically evaluating the whole process. In all, the two committees published ten recommendations for the broader implementation of NIPT, including suggested next steps.

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Position statement on non-invasive prenatal screening issued

The discovery could help scientists develop more effective drugs to combat alcoholism

Virginia Commonwealth University School of Medicine researchers have discovered a biological clue that could help explain why some drinkers develop a dependence on alcohol and others do not.

The findings move researchers closer to identifying those at risk for addiction early and designing better drug treatments to help people stop drinking.

About 18 million people in the United States have an alcohol use disorder, according to National Institutes of Health statistics. The vast majority go untreated.

"There are few and inadequate pharmacological treatments to help people who want to stop drinking, because this is a terrifically difficult human genetics problem," said Jill C. Bettinger, Ph.D., associate professor in the Department of Pharmacology and Toxicology, VCU School of Medicine. "If we can better understand the molecular effects of alcohol, we can design more rational treatments and even warn people who are more susceptible to developing a dependence."

Bettinger is the senior author of a paper, "SWI/SNF Chromatin Remodeling Regulates Alcohol Response Behaviors in Caenorhabditis Elegans and is Associated With Alcohol Dependence in Humans," published Feb. 23 in the journal Proceedings of the National Academy of Sciences.

The paper describes how researchers examined the role of a protein complex -- called switching defective/sucrose nonfermenting (SWI/SNF) -- in determining the behavioral response of roundworms to alcohol.

Researchers watched through microscopes as the tiny worms became drunk on ethanol, studying how their initial sensitivity to the alcohol and tolerance changed based on which genes were expressed within the SWI/SNF complex.

Because humans and worms have a similar genetic makeup, Bettinger then turned to Brien P. Riley, Ph.D., associate professor in the Departments of Psychiatry and Human and Molecular Genetics at VCU School of Medicine and co-author of the recently published paper. Riley is director of the Molecular Genetics Lab at the Virginia Institute for Psychiatric and Behavioral Genetics, where researchers have been studying the human genome and its relationship to the risk of illness or other traits.

Riley found that naturally occurring genetic variations in the same SWI/SNF complex so crucial to a worm's tolerance were also associated with alcohol dependence in humans. Unlike Huntington's and other diseases, which can be linked to a mutation in a single gene, the evidence suggests that the likelihood to develop alcoholism is the product of mutations in many genes, each with small effect. The SWI/SNF complex genes represent a piece of that puzzle.

See more here:
Researchers find link between genetic variation and alcohol dependence

Anne O'Donnell Luria, M.D., Ph.D., Boston Children's Hospital; Mari Mori, M.D., Duke University; Laurie Robak M.D., Ph.D., Baylor College of Medicine receive Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Aw

Anne O'Donnell Luria, MD, PhD, of Boston Children's Hospital, Mari Mori, MD of Duke University, and Laurie Robak MD, PhD of Baylor College of Medicine were honored as the 2015-2016 recipients of the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars Fellowship Award at the ACMG 2015 Annual Clinical Genetics Meeting in Salt Lake City, Utah.

The objective of this fellowship is to provide an in-depth clinical research training experience at a premier medical center with expertise and significant clinical volume in the area of biochemical genetics, including lysosomal storage diseases, as well as in therapeutics and clinical trials involving patients with these and other metabolic diseases and, thereby, to increase the number of medical geneticists with interest, knowledge, and expertise in this area.

This Award grants $75,000 per year to the three recipients selected by the ACMG Foundation through a competitive process and will provide for the sponsorship of one year of the trainee's clinical genetics subspecialty in translational genomics following residency.

Dr. O'Donnell Luria received her MD and PhD at Columbia University, New York, and is currently completing a combined residency in Pediatrics and Medical Genetics at Boston Children's Hospital, Boston MA. "I am honored to receive the Pfizer/ACMG Foundation Translational Genomics Scholars Fellowship Award. I appreciate the support from Pfizer and the ACMG Foundation to gain additional training in biochemical genetics. I am grateful for the excellent training environment provided by wonderful clinicians, staff, and families that I have had the pleasure to work and train with at Harvard Medical School, Boston Children's Hospital, and Massachusetts General Hospital. This fellowship supports my efforts to begin a research program looking at transcriptional and epigenetic variation in lysosomal storage disease, with an aim of identifying new biomarkers of disease and potential therapeutic targets." Her research during the award period will focus on diagnosis and management of infants, children and adults with inborn errors of metabolism and the impact of epigenetic alterations.

Dr. Mori received her MD at Nagasaki University School of Medicine, Nagasaki, Japan, and MS in Biomedical Informatics at University of Pittsburgh, Pittsburgh PA. She is currently completing her Medical Biochemical Genetics Fellowship at Duke University Medical Center, Durham, NC, after completing a General Genetics Residency at Nationwide Children's Hospital/Ohio State University in Columbus, OH. Her research during the award period will focus on the identification of modifier genes from carefully phenotyped patients with Pompe disease at Duke University Medical Center. "I am deeply honored to be one of the recipients of the Pfizer/ACMG Foundation award. The award allows me to extend my biochemical genetics training to investigate factors that affect variable phenotypes of Pompe disease, under the guidance of Dr. Priya Kishnani, Professor of Pediatrics Division Chief, Medical Genetics at Duke University. The research would lead to a better understanding of prognostication of rare Mendelian diseases, and would have clinical impacts, especially for asymptomatic patients with a lysosomal disease detected by newborn screening."

Dr. Robak received her MD and PhD at University of Rochester, Rochester NY, and is currently completing her combined residency in Pediatrics and Medical Genetics at Baylor College of Medicine. Her research during the award period will focus on exploring the links between Lysosomal Storage Disorders and Parkinson 's disease at Baylor College of Medicine. "I am honored to be a recipient of the 2015 Pfizer/ACMG Foundation Fellowship Award. This June, I will be completing my combined Pediatrics/Medical Genetics residency at Baylor College of Medicine. This prestigious award will allow me to continue my research investigating potential links between lysosomal storage disorders and adult-onset neurodegenerative disorders. My project will be under the guidance of Dr. Joshua Shulman, Assistant Professor of Neurology and Molecular & Human Genetics at Baylor College of Medicine. By providing critical support during my transition from residency to junior faculty, this fellowship will promote my successful career development as a physician-scientist."

"With all of the advances in genomics, the Pfizer/ACMG Foundation Clinical Genetics Combined Residency for Translational Genomic Scholars presents an important opportunity to develop new approaches to diagnosis and treatment of genetic disorders. This fellowship is therefore a key component of our initiative to train physician scientists to be leaders in translational research in medical genomics," said Bruce R. Korf, MD, PhD, FACMG, president of the ACMG Foundation.

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Note to editors: To arrange interviews with experts in medical genetics, contact Kathy Beal, MBA, ACMG Director of Public Relations at kbeal@acmg.net or 301-238-4582.

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Dr. Luria, Mori and Robak receive Pfizer/ACMG Foundation Translational Genomic Fellowship Award