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Category Archives: Genetic Medicine

Prenatal genetic test offers more information, raises questions

CHICAGO - The latest advance in prenatal genetic testing purports to offer parents more detailed information than ever about the child they are expecting. But for some, the new answers could lead to another round of questions.

The technology allows doctors to detect small or subtle chromosomal changes in a fetus - such as missing or extra pieces of DNA - that could be missed by standard tests.

Most parents will get results confirming a normal pregnancy. But some will learn that their baby has a birth defect, a developmental problem or other medical condition, and in a small number of cases the test will detect things that no one knows quite how to interpret.

The information can allow parents to prepare for early intervention and treatment, but it also could raise questions about terminating the pregnancy or lead to nagging worry over uncertain results.

The Reproductive Genetics Institute in Chicago, which has helped pioneer the rapidly developing field of prenatal diagnosis and testing, recently began offering the procedure - array comparative genomic hybridization, or array CGH for short - to any pregnant woman who wants it.

"The technology has been available for a number of years . but it has almost never been used prenatally," said Dr. Norman Ginsberg, an obstetrician specializing in prenatal genetic testing at the institute. "We think this is the beginning of the next generation of how we'll look at things."

Other medical experts see the technology as promising but have concerns about using it as a first-line test because of the potential drawbacks and the lack of published research. The availability of array CGH also raises fundamental, sometimes delicate, questions for parents.

How much do they want to know about their child's genetic makeup before he is born? How will they deal with the uncertainty of some test results, such as detection of chromosomal changes that have not been associated with diseases? Should the technology be used to identify diseases in their children that would not emerge until adulthood?

"This technology is giving genetic counselors and physicians a challenge in that there is more to discuss with patients, and it gives patients a lot more to think about in terms of what kinds of information they want to know about their baby prior to delivery," said Jennifer Hoskovec, director of prenatal genetic counseling services at the University of Texas Medical School at Houston.

Array CGH is just one of the newer microarray technologies expected to become widely available to parents.

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Genetic factors linked to gay men

PADOVA, Italy, June 16 (UPI) -- Researchers in Italy suggest sexually antagonistic genetic factors in mothers may promote homosexuality in men and fertility in female relatives.

However, it is not clear whether and how the genetic factors are expressed to simultaneously induce homosexuality in men and increased fertility in their mothers and maternal aunts, the researchers said.

Andrea Camperio Ciani of the University of Padova in Italy discovered mothers and maternal aunts of gay men tend to have significantly more offspring than those of straight men.

The study, scheduled to be published in the Journal of Sexual Medicine, said it appeared at least one gene on the X chromosome resulted in more men being gay and women having more children.

"Using questionnaires, we investigated fecundity -- fertility -- in 161 female European subjects and scrutinized possible influences, including physiological, behavioral and personality factors," Ciani said in a statement. "We compared 61 females who were either mothers or maternal aunts of homosexual men. One hundred females who were mothers or aunts of heterosexual men were used as controls."

The analysis showed both mothers and maternal aunts of homosexual men show increased fecundity compared with corresponding maternal female relatives of heterosexual men.

A two-step statistical analysis found mothers and maternal aunts of homosexual men had fewer gynecological disorders; fewer complicated pregnancies; less interest in having children; less emphasis on romantic love; placed less importance on their social life; showed reduced family stability; were more extraverted; and were divorced or separated from their spouses more frequently.

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Genetic factors linked to gay men

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Unborn genetic tests being perfected at UW for 3K disorders

by Cathy Marshall

kgw.com

Posted on June 15, 2012 at 6:01 AM

Updated today at 6:09 AM

With a blood sample from the mother and a swab of saliva from the father scientists could soon be able to screen unborn babies for more than 3,000 genetic disorders.

Currently the only routine test if for Downs Syndrome.

This might give peace of mind if they dont find problems. On the other hand what do you do about problems? Can you treat them? Will lit lead to more abortions? said CNN Medical Correspondent Dr. Bruce Hensel.

Scientists at the University of Washington were able to map the genetics of a fetus with 99 percent accuracy. The breakthrough can detect genetic mutations like if a child is predisposed to cancer.

If you think of a genome as a book and a healthy person has two copies of every chapter. We are trying to pick up the typos and single words on a single page, explained UW researcher Dr. Jay Shendure.

Some of the mutations are certain, telling if a child will be born with a disability. Others are less certain, indicating a baby has a greater likelihood of developing a disorder.

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Leaders in Personalized Medicine to Discuss Clinical and Market Access Challenges at 4th Annual Personalized Medicine …

MINNEAPOLIS--(BUSINESS WIRE)--

The worlds leading experts in the field of personalized medicine are meeting in Boston, MA September 12th and 13th 2012 for the 4th Annual Personalized Medicine Conference. This conference will tackle the issues driving, as well as restraining, the clinical delivery of personalized medicine, including coding and reimbursement, whole genome sequencing in practice, the economics of personalized medicine, Medicare policy, and market access challenges for companion diagnostics.

Personalized medicine has the potential to revolutionize medical care by utilizing an improved understanding of genetics and molecular biology to allow for better, more precise diagnostic tests, greater predictability of disease course, and improved patient safety.

Speakers and panelists will be answering the following key questions:

Is personalized medicine changing clinical practice? Can personalized medicine improve clinical outcomes? Will insurers fund the genomic revolution? What types of validation requirements are payors looking for?

At this conference, Robert C. Green, MD, MPH, Director, G2P Research Program, Associate Director for Research, Partners Center for Personalized Genetic Medicine, Brigham and Women's Hospital and Harvard Medical School will discuss the impact that whole genome sequencing will have on the practice of medicine, patients, and health care costs, as well as the potential risks associated with its use.

An important question being asked today by the medical community is What genome information is ready for clinical use? Michael Christman, Ph.D., President & CEO, Coriell Institute for Medical Research will be answering this question in a presentation which will outline how the Coriell Personalized Medicine Collaborative (CPMC) is studying the use of genomic information in clinical decision-making.

Bryan Loy, MD, Market Medical Officer, Humana will describe the various perspectives that must be considered when addressing the payment methods for molecular diagnostics. He will discuss the issue of more widely integrating personalized medicine, while keeping the health plan, the consumer, and the provider in mind.

Dora Dias-Santagata, Ph.D., Instructor of Pathology, Harvard Medical School and Co-Director, Translational Research Laboratory at Mass General, will be describing her experience in developing and implementing a clinical platform for broad-base tumor genotyping. She will also outline the challenges that arose in her clinical testing. Her presentation will also include patient cases with clinical follow-up.

Numerous other speakers will be participating. Please visit http://www.personalized-medicine-conference.com for the full list of speakers, a preliminary agenda, and information on how to register to attend.

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Genetic Discovery Will Help Fight Diarrhoea Outbreaks

Main Category: GastroIntestinal / Gastroenterology Also Included In: Genetics Article Date: 13 Jun 2012 - 16:00 PDT

Current ratings for: 'Genetic Discovery Will Help Fight Diarrhoea Outbreaks'

Published today in the journal Evolutionary Applications, the findings pave the way for a new gold standard test to distinguish between the waterborne parasite's two main species affecting humans. One species is spread from person to person (Cryptosporidium hominis) but the other is often spread from livestock to people (Cryptosporidium parvum).

"Being able to discriminate quickly between the two species means it is easier to spot an outbreak as it develops, trace the original source, and take appropriate urgent action to prevent further spread," said lead author Dr Kevin Tyler of Norwich Medical School at UEA.

Cryptosporidium is a protozoan parasite that causes outbreaks of diarrhoea across the globe. In the UK, around two per cent of cases of diarrhoea are caused by the organism and many people will be infected at some time in their lives. Symptoms include watery diarrhoea, stomach pain, nausea and vomiting and can last for up to a month, but healthy people usually make a full recovery.

However, in the developing world infection can be serious in malnourished children and a significant cause of death in areas with high prevalence of untreated AIDS.

In the UK, outbreaks have been caused by faulty filtration systems in water supplies and transmission through swimming pools because the parasite is not killed by chlorine disinfection. Outbreaks also occur at open farms and in nurseries. People can also be infected by eating vegetables that have been washed in contaminated water. Hygiene is important in the prevention of spread of Cryptosporidium: people are advised to always wash their hands with warm running water and soap after touching animals, going to the toilet, changing nappies and before preparing, handling or eating food.

In this EU-funded study, the researchers identified the first parasite proteins that are specific to the different species. They found them at the ends of the chromosomes where they had been missed during previous parasite genetic studies.

Dr Tyler said: "Our discovery is an important advance in developing new simple and reliable tests for identifying these two species of parasite. This is the first step in discriminating outbreaks from sporadic cases, local strains from exotic ones, and tracing the source of outbreaks to an individual water supply, swimming pool or farm."

The UEA team worked with colleagues at the UK Cryptosporidium Reference Unit in Swansea, and Barts and the London School of Medicine and Dentistry, part of Queen Mary, University of London. Recently obtained renewed funding from the EU will enable further development towards a diagnostic test for use in the water industry and public health.

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Genetic discovery will help fight diarrhea outbreaks

Public release date: 13-Jun-2012 [ | E-mail | Share ]

Contact: Simon Dunford s.dunford@uea.ac.uk 44-160-359-2203 University of East Anglia

Researchers at the University of East Anglia (UEA) have discovered unexpectedly large genetic differences between two similar species of the pathogenic Cryptosporidium parasite.

Published today in the journal Evolutionary Applications, the findings pave the way for a new gold standard test to distinguish between the waterborne parasite's two main species affecting humans. One species is spread from person to person (Cryptosporidium hominis) but the other is often spread from livestock to people (Cryptosporidium parvum).

"Being able to discriminate quickly between the two species means it is easier to spot an outbreak as it develops, trace the original source, and take appropriate urgent action to prevent further spread," said lead author Dr Kevin Tyler of Norwich Medical School at UEA.

Cryptosporidium is a protozoan parasite that causes outbreaks of diarrhoea across the globe. In the UK, around two per cent of cases of diarrhoea are caused by the organism and many people will be infected at some time in their lives. Symptoms include watery diarrhoea, stomach pain, nausea and vomiting and can last for up to a month, but healthy people usually make a full recovery.

However, in the developing world infection can be serious in malnourished children and a significant cause of death in areas with high prevalence of untreated AIDS.

In the UK, outbreaks have been caused by faulty filtration systems in water supplies and transmission through swimming pools because the parasite is not killed by chlorine disinfection. Outbreaks also occur at open farms and in nurseries. People can also be infected by eating vegetables that have been washed in contaminated water. Hygiene is important in the prevention of spread of Cryptosporidium: people are advised to always wash their hands with warm running water and soap after touching animals, going to the toilet, changing nappies and before preparing, handling or eating food.

In this EU-funded study, the researchers identified the first parasite proteins that are specific to the different species. They found them at the ends of the chromosomes where they had been missed during previous parasite genetic studies.

Dr Tyler said: "Our discovery is an important advance in developing new simple and reliable tests for identifying these two species of parasite. This is the first step in discriminating outbreaks from sporadic cases, local strains from exotic ones, and tracing the source of outbreaks to an individual water supply, swimming pool or farm."

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Genetic discovery will help fight diarrhea outbreaks

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