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Previvo Genetics Featured on RedBookMag.com: The Fertility World’s Latest Genetic Breakthrough

As published on www.RedBookMag.com, November 12, 2014
Imagine being able to skyrocket your chances of a successful pregnancy and make sure your future baby will be free of genetic disease—pretty enticing, right? To date, preimplantation genetic diagnosis (PGD) and screening (PGS) have been the most reliable ways to accomplish these ends, but they could only be done in tandem with IVF (not the most desirable method for otherwise fertile couples, thanks to its heavy emotional and physical tolls).

Now a brand-new device called Previvo is making it possible to get all the same genetic intel without having to do IVF. Here’s how it works: The early part of the process mimics a medicated IUI cycle, with the female patient taking fertility drugs to induce superovulation (i.e., producing a bunch of eggs rather than just one). She then takes a “trigger shot” to release the multiple eggs from her ovaries and is inseminated with sperm 36 hours later (as is also typical of IUI).

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Previvo Genetics Presents Abstract at the Annual American Society for Reproductive Medicine (ASRM) Meeting

As published in Fertility and Sterility October 20, 2014
Kelly Pagidas, M.D. presents Previvo uterine lavage catheter: a novel device for the recovery of invivo derived human embryos by non-surgical uterine lavage.

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Exclusive: 'Jaw-dropping' breakthrough hailed as landmark in fight against hereditary diseases as Crispr technique heralds genetic revolution

As published on The Independent November 7, 2013
A breakthrough in genetics – described as “jaw-dropping” by one Nobel scientist – has created intense excitement among DNA experts around the world who believe the discovery will transform their ability to edit the genomes of all living organisms, including humans.

People who use this technique will avoid implanting chromosomally abnormal embryos that would result in either not becoming pregnant, or in miscarriage.

The development has been hailed as a milestone in medical science because it promises to revolutionise the study and treatment of a range of diseases, from cancer and incurable viruses to inherited genetic disorders such as sickle-cell anaemia and Down syndrome.

TFor the first time, scientists are able to engineer any part of the human genome with extreme precision using a revolutionary new technique called Crispr, which has been likened to editing the individual letters on any chosen page of an encyclopedia without creating spelling mistakes. The landmark development means it is now possible to make the most accurate and detailed alterations to any specific position on the DNA of the 23 pairs of human chromosomes without introducing unintended mutations or flaws, scientists said.

The technique is so accurate that scientists believe it will soon be used in gene-therapy trials on humans to treat incurable viruses such as HIV or currently untreatable genetic disorders such as Huntington’s disease. It might also be used controversially to correct gene defects in human IVF embryos, scientists said.

The high resolution testing can tell, “which embryos have a disease, which embryos are carriers and which embryos are unaffected,” Glassner said. “But the question is, where is your break point? At what point do you say, ‘Alright, there is no other information that is going to be channeled to the couple.’”

Until now, gene therapy has had largely to rely on highly inaccurate methods of editing the genome, often involving modified viruses that insert DNA at random into the genome – considered too risky for many patients.

The new method, however, transforms genetic engineering because it is simple and easy to edit any desired part of the DNA molecule, right down to the individual chemical building-blocks or nucleotides that make up the genetic alphabet, researchers said.

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NPR Feature: IVF and Genetic Diagnostics

As broadcasts on NPR's here & Now - August 6, 2013
A Philadelphia baby, born in May, is the first child in the world conceived using a new in vitro fertilization (IVF) technique, which screens embryos for chromosomal disorders and abnormalities before implantation.

People who use this technique will avoid implanting chromosomally abnormal embryos that would result in either not becoming pregnant, or in miscarriage.

The cost-saving implications are huge, but the implications don’t end there. The process can screen the entire human genome and pinpoint not only common genetic problems in embryos, but trait such as hair color, eye color and potential height.

The process, called Next Generation Sequencing (NGS), raises ethical questions.

Dr. Michael Glassner, of Main Line Health in Pennsylvania, partnered with researchers at Oxford to assist in baby Connor Levy’s conception.He says the team used a “low resolution” version of the technique. “On low resolution, we’re not getting any other information than we’ve been getting for years,” he said. “But the capability is there, if you do the testing on a high resolution, to detect thousands of different genetic sequencing.”

The high resolution testing can tell, “which embryos have a disease, which embryos are carriers and which embryos are unaffected,” Glassner said. “But the question is, where is your break point? At what point do you say, ‘Alright, there is no other information that is going to be channeled to the couple.’”

Glassner says while the technology is capable of identifying traits such as hair color, eye color and height, that’s not where doctors are focusing their energy.

“Advances in medicine move ahead of the ethical controversies that may be the storm that follows,” he said. “These are obviously uncharted waters. The concept of a designer child is not what most doctors are interested in being part of.”

To listen to the interview and read the transcipt.

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My Medical Choice

Op-Ed Contributor Angelina Jolie, As published in the New York Times - May 14, 2013
MY MOTHER fought cancer for almost a decade and died at 56. She held out long enough to meet the first of her grandchildren and to hold them in her arms.

But my other children will never have the chance to know her and experience how loving and gracious she was.

We often speak of “Mommy’s mommy,” and I find myself trying to explain the illness that took her away from us. They have asked if the same could happen to me. I have always told them not to worry, but the truth is I carry a “faulty” gene, BRCA1, which sharply increases my risk of developing breast cancer and ovarian cancer.

My doctors estimated that I had an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer, although the risk is different in the case of each woman.

Only a fraction of breast cancers result from an inherited gene mutation. Those with a defect in BRCA1 have a 65 percent risk of getting it, on average.

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Study Could Spur Wider Use of Prenatal
Gene Tests

As published in USA Today - December 6, 2012
A new study sets the stage for wider use of gene testing in early pregnancy. Scanning the genes of a fetus reveals far more about potential health risks than current prenatal testing does, say researchers who compared both methods in thousands of pregnancies nationwide.

A surprisingly high number — 6 percent — of certain fetuses declared normal by conventional testing were found to have genetic abnormalities by gene scans, the study found. The gene flaws can cause anything from minor defects such as a club foot to more serious ones such as mental retardation, heart problems and fatal diseases.

“This isn't done just so people can terminate pregnancies,” because many choose to continue them even if a problem is found, said Dr. Ronald Wapner, reproductive genetics chief at Columbia University Medical Center in New York. “We're better able to give lots and lots of women more information about what's causing the problem and what the prognosis is and what special care their child might need.”

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Father’s Age Is Linked to Risk of Autism
and Schizophrenia

As published in The New York Times - August 22, 2012
Older men are more likely than young ones to father a child who develops autism or schizophrenia, because of random mutations that become more numerous with advancing paternal age, reported on Wednesday, in the first study to quantify the effect as it builds each year. The age of mothers had no bearing on the risk for these disorders, the study found.

The age of mothers had no bearing on the risk for these disorders, the study found.

Experts said that the finding was hardly reason to forgo fatherhood later in life, though it might have some influence on reproductive decisions. The overall risk to a man in his 40s or older is in the range of 2 percent, at most, and there are other contributing biological factors that are entirely unknown.

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European Agency Backs Approval of a
Gene Therapy

As published in The New York Times - July 20, 2012
After more than two decades of dashed expectations, the field of gene therapy appears close to reaching a milestone: a regulatory approval.

The European Medicines Agency has recommended approval of a gene therapy to treat a rare genetic disease, according to the agency’s Web site.

If the European Commission follows the advice, as it usually does, this would be the first regulatory approval of a gene therapy drug in the Western world. That could give a boost to the field, which at times has struggled for credibility and financing.

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Photo credit: New York Times, Willy Slingerland

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Unborn babies could be tested for 3,500
genetic faults

As published in The Telegraph - June 6, 2012
Scientists could soon be able to routinely screen unborn babies for thousands of genetic conditions, raising concerns the breakthrough could lead to more abortions.

A team has been able to predict the whole genetic code of a foetus by taking a blood sample from a woman who was 18 weeks pregnant, and a swab of saliva from the father.

They believe that, in time, the test will become widely available, enabling doctors to screen unborn babies for some 3,500 genetic disorders.

At the moment the only genetic disorder routinely tested for on the NHS is Down’s syndrome.This is a large-scale genetic defect caused by having an extra copy of a bundle of DNA, called a chromosome.

Other such faults are sometimes tested for, but usually only when there is a risk of inheriting them from a parent.

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Photo credit: ALAMY

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Treatment for Blood Disease Is Gene Therapy Landmark

As published in The New York Times - December 10, 2011
Medical researchers in Britain have successfully treated six patients suffering from the blood-clotting disease known as hemophilia B by injecting them with the correct form of a defective gene, a landmark achievement in the troubled field of gene therapy.

Hemophilia B, which was carried by Queen Victoria and affected most of the royal houses of Europe, is the first well-known disease to appear treatable by gene therapy, a technique with a 20-year record of almost unbroken failure.

“I think this is a terrific advance for the field,” said Dr. Ronald G. Crystal, a gene therapist at Weill Cornell Medical College. “After all the hype in the early 1990s, I think the field is really coming back now.”

Gene therapy has had minor successes in very rare diseases but suffered a major setback in 1999 with the death of a patient in a clinical trial at the University of Pennsylvania. Another gene therapy trial treated an immune deficiency but caused cancer in some patients.

The general concept of gene therapy — replacing the defective gene in any genetic disease with the intact version — has long been alluring. But carrying it out in practice, usually by loading the replacement gene onto a virus that introduces it into human cells, has been a struggle.

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Photo credit: University College London

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Unraveling Preimplantation Genetic Diagnosis for High-Risk Couples Implications for Nurses at the Front Line of Care

As published Nursing Womans Health - Feb - March 2011
Two decades have passed since preimplantation genetic diagnosis (PGD) was successfully used to benefit high-genetic-risk couples with a known genetic disorder.

This novel reproductive option allows couples the ability to find out important genetic information about their embryos prior to establishing a pregnancy.

For many couples, the awareness of specific genetic mutations or markers of their in vitro embryos avoids the anguishing decision often associated with traditional prenatal diagnosis—whether or not to terminate an ongoing pregnancy.

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How To Navigate The Commerce Of Conception

As published on CNBC - May 20, 2011
Infertility continues to rise sharply among American women, while more of them are seeking medical treatment to help their chances of having a child.

At the same time, there's been little change in success rates for the $3-billion-a-year industry and costs remain high, even for those with health insurance coverage.

“Insurance doesn’t pay what the physician charges," says Dr. Cristina Matera, infertility specialist at Columbia University’s Medical Center. "They will reimburse what they deem ‘reasonable and customary.’ How they figure that out, no one knows. You can go through ten or twenty thousand dollars out-of-pocket pretty quickly in infertility.”

Some 7.3 million American, or 12 percent of those in the so-called reproduction age group, have a fertility problem, according to the Centers for Disease Control. That's 20 percent higher than 2006. Treatments to correct the problem are up at growing at a slightly lesser pace — 16 percent — according to the Society for Assisted Reproductive Technology, SART.

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One more step towards the end of recessive diseases

As published in ScienceBlogs - January 13, 2011
In the last century infant mortality has declined precipitously in the Western world, thanks in large part to the development of antibiotics and vaccination. Yet as the suffering and death from infectious disease has reduced, the burden from genetic disease has become proportionately greater: currently around 20% of all infant deaths in developed countries are a result of inherited Mendelian (single-gene) disorders.

What can be done to reduce this burden? Increasingly sophisticated methods for detecting disease in embryos during pregnancy will help, and these have recently taken another step forward with the development of accurate, non-invasive methods based on analysing foetal DNA in the blood of pregnant mothers (an article in the BMJ this week demonstrates the feasibility of this approach for a non-Mendelian disease, Down syndrome; and the same group showed late last year that this approach can also be applied to effectively any known disease-causing mutation). Yet these approaches detect disease after pregnancy has already begun.

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New Genetic Test Helps Parents Have
Healthy Babies

As published on ABC News - February 1, 2010
Ally Zwahlen and her husband Steve are eager to start a family. They are both in good health. But they want to assess the risks: are they in danger of having children with a rare, inherited disease or some sort of devastating illness?

A new form of screening, called the Counsyl Universal Genetic Test, could give them the answers they need.

I'm confident that it's going to alleviate a lot of uncertainties, and provide peace of mind, Ally, who is 32 and lives in Danville, Calif., told ABC News.

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Largest Study Of PGD Children Shows Embryo Biopsy Is Safe For Singleton Pregnancies

As published in Medical News Today - December 23, 2009
The largest and longest running study of children born after preimplantation genetic diagnosis and screening has shown that embryo biopsy does not adversely affect the health of babies born as the result of a subsequent singleton pregnancy.

The Belgian research, which is published online in the January issue of Europe's leading reproductive medicine journal Human Reproduction [1], is the best answer to date to the question of whether removing a cell or two from an embryo to screen it for inherited conditions or genetic abnormalities can, in itself, put the subsequent foetus and baby at greater risk of other health problems.

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A Cure for Health Costs?

As published on The Daily Beast - December 23, 2009
What's the secret to improving public health while cutting costs? The question has consumed Washington, but it's being answered elsewhere, by doctors offering a new test for more than 100 rare recessive genes, some of which cause fatal diseases. The test, Counsyl, lets potential parents assess their genomes to see if their future kids are at risk. They can then decide, with in vitro fertilization and preimplantation genetic diagnosis (PGD), to carry only healthy embryos.

This is as preventive as medicine gets: the test could eliminate all single-recessive-gene diseases. It's also a money saver at $350--nothing compared with the lifetime cost of caring for a sick kid. Since May the test has caught on with big-name thinkers and hundreds of elite fertility doctors. It's popular abroad, too; the Taiwanese government may soon offer it to everyone, free.

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PGD Technology Offers More Than Designer Babies

As published in Medical News Today - April 1, 2009
Pacific Fertility Center is pleased to announce its 50th child delivered after using preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Recent media attention about "designer babies" mentioned PGD and PGS. The use of this science for such "futuristic" action should not diminish the value and purpose for which it is used today. Pacific Fertility Center is proud to have been a pioneer in the true science and beneficial use of PGD and PGS .The value of these tools, as a way to help families build healthy futures, should be at the forefront of our medical breakthroughs. PGD has enabled Pacific Fertility Center to extend its goal of building families, one healthy baby at a time.

Pacific Fertility Center is a leading San Francisco-based fertility practice, specializing in In Vitro Fertilization (IVF) and PGD. With the birth of Pacific Fertility Center's 50th child using PGD, we mark the evolution of a major program in the diagnosis and prevention of genetic illness. Outstanding clinical pregnancy rates (over 50% clinical pregnancy rates in 2008) and a compassionate, caring staff has contributed to our success.

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PGD: technological advances to improve accuracy and range of applications

As published in PubMed - April 16, 2008
Preimplantation genetic diagnosis (PGD) is an option for couples who are at risk that enables them to have unaffected progeny without facing the risk of pregnancy termination after prenatal diagnosis as currently practiced.

It is also one of the practical tools used in assisted reproduction technology to improve the chance of conception for infertility cases with poor prognosis. Because PGD is performed using a single biopsied cell, technological advances are important to improving PGD accuracy. This has contributed to the avoidance of misdiagnosis in PGD for single gene disorders, and extensive experience in PGD for chromosomal disorders suggests strategies for more reliable evaluation of the chromosomal status of the preimplantation embryo. This paper describes the present status of PGD for genetic and chromosomal disorders, its accuracy and range, and how PGD is an integral part of IVF and genetic practices.

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Place of PGD in genetic practice.

As published in PubMed - April 2005
Preimplantation genetic diagnosis (PGD) is currently one of the practical options available for couples at-risk to avoid the birth of children with genetic and chromosomal disorders.

Despite its novelty, PGD has already become an alternative to traditional prenatal diagnosis, allowing establishing only unaffected pregnancies avoiding the risk for pregnancy termination. Indications for PGD have currently expanded beyond those practices in prenatal diagnosis, such as late-onset diseases with genetic predisposition, and preimplantation HLA typing with the purpose of establishing potential donor progeny for stem cell treatment of siblings, which makes PGD also an important compliment to prenatal diagnosis.

The fact that more than 1,000 apparently healthy unaffected children have been born after PGD suggests its accuracy, reliability, and safety. PGD is presently an excellent option for carriers of balanced translocations, and appears to be of special value for avoiding age-related aneuploidies in patients of advanced reproductive age. The accumulated experience of thousands of PGD cycles for poor prognosis in vitro fertilization (IVF) patients provides strong evidence of the improvement of clinical outcome, particularly obvious from the reproductive history of patients. This makes of practical relevance to inform couples at-risk about availability of PGD option, so they make their own choice in avoiding the birth of affected offspring and having healthy children of their own.

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To design "the baby one wishes for" is theoretically possible. Ethical issues in preimplantation diagnosis must be defined.

As published in PubMed - November 2000
Preimplantation genetic diagnosis (PGD) is a controversial method: while it prevents genetic disorders it is also said to have a eugenic side. It gives rise to many questions: What are the ethical differences between PGD and prenatal postimplantation diagnosis? Is PGD an ethically justifiable method?

The conclusion is that PGD is to be preferred to prenatal diagnosis for couples who are at high risk of giving birth to children with very serious genetical diseases with an early onset.

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A study of medical costs associated with selected genetic disorders in Texas

As published on National Center for Biotechnology Information - February 26, 1990
We estimated that the payments associated with the 11 selected diseases during 1987 in Texas included $88.2 million from Medicaid and $10.6 million from CIDC for a total of $98.8 million.

Patients with these diseases represented 0.83% of Medicaid claims, but 4.68% of Medicaid payments. Medicaid payments for genetic services for patients with these 11 selected disorders in Texas during a nine-month period in 1987 were $10,122, or 0.02% of the total Medicaid payments for these claimants. We conclude that our estimate of the Medicaid payments for these disorders in 1987 of nearly $100 million represents a low estimate of the true medical costs for the care of these patients. This study also indicates that these 11 disorders represent a disproportionate share of Medicaid payments; i.e., these patients show a high ratio of payment per claim. We also conclude from these data that CIDC is a significant source of support for the medical care of these patients in Texas. And, finally, this study suggests that referral for genetic services represents a significant barrier for individuals in need of these services.

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