Category Archives: Genetics & Birth Defects

Test could boost newborn cystic fibrosis screening

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Illustration of the lungs in blueBy Barbara Feder Ostrov
KHN

Stanford University scientists say they’ve devised a more accurate and comprehensive DNA test to screen newborns for cystic fibrosis, the most common fatal genetic disease in the United States.

Affecting about one in 3,900 babies born in the U.S., cystic fibrosis causes mucus to build up in the lungs, pancreas and other organs, leading to frequent lung infections and often requiring lifetime treatment for patients, whose median lifespan is 37 years.

Every state screens newborns for cystic fibrosis, but the current sequence of tests can miss cases, threatening babies’ lives.

The new method described in a recent article in The Journal of Molecular Diagnostics, promises to be more efficient and cost-effective, researchers said. It may also improve screening for non-white babies, for whom cystic fibrosis is rarer and harder to diagnose.

The new method promises to be more efficient and cost-effective and may also improve screening for non-white babies in whom cystic fibrosis harder to diagnose.

“I think this is a major advance. It offers the promise of potentially eliminating the false negative results that lead to missed cases,” said Dr. Philip Farrell, a former dean of the University of Wisconsin School of Medicine and Public Health, and a nationally-known expert on cystic fibrosis screening for newborns. “If you miss a case, you’ve got a baby out there who has a significant possibility of dying undiagnosed.”

Cystic fibrosis is caused by a defect in the CFTR gene, which regulates the movement of water and salt out of the body’s cells. In California, current genetic screens look for 40 of the most common mutations of the CFTR gene in newborns.

Yet any of the more than 2,000 known mutations in that gene could play a role in the disease, and there are likely others that have not yet been discovered.

The new test uses “next generation” DNA sequencing that can quickly and more cheaply look at the entire CFTR gene, not just selected mutations. It does not require an extra blood sample. Rather, it uses the tiny amount of blood drawn from the common newborn heel stick test that’s already used to screen for a number of diseases, including cystic fibrosis.

The researchers say this advance can enable testing labs to review many newborn samples at a time and reduce costs, allowing a technology previously used only to diagnose individual cases to be applied to a large population. Continue reading

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CDC warns of the danger of drinking while pregnant

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From the US Centers for Disease Control and Prevention

Alcohol and Pregnancy

Why Take the Risk?

An estimated 3.3 million US women between the ages of 15 and 44 years are at risk for exposing their developing baby to alcohol because they are drinking, sexually active, and not using birth control to prevent pregnancy, according to a new CDC Vital Signs report.

Screen Shot 2016-02-04 at 10.24.26 AM

The report also found that 3 in 4 women who want to get pregnant as soon as possible do not stop drinking alcohol.

  • Alcohol use during pregnancy, even within the first few weeks and before a woman knows she is pregnant, can cause lasting physical, behavioral, and intellectual disabilities that can last for a child’s lifetime. These disabilities are known as fetal alcohol spectrum disorders (FASDs). There is no known safe amount of alcohol – even beer or wine – that is safe for a woman to drink at any stage of pregnancy.
  • About half of all pregnancies in the US are unplanned and, even if planned, most women will not know they are pregnant until they are 4-6 weeks into the pregnancy when they still might be drinking.

Every woman who is pregnant or trying to get pregnant – and her partner – want a healthy baby. But they may not be aware that drinking alcohol at any stage of pregnancy can cause a range of disabilities for their child.

It is critical for healthcare providers to assess a woman’s drinking habits during routine medical visits; advise her not to drink at all if she is pregnant, trying to get pregnant, sexually active, and not using birth control; and recommend services if she needs help to stop drinking.

For this Vital Signs report, scientists from CDC’s National Center on Birth Defects and Developmental Disabilities analyzed data from the 2011–2013 National Survey of Family Growth, which gathers information on family life, marriage, divorce, pregnancy, infertility, use of birth control, and men’s and women’s health.

National estimates of alcohol-exposed pregnancy were calculated among 4,303 non-pregnant, non-sterile women aged 15–44 years.

A woman was considered to be at risk for an alcohol-exposed pregnancy if she was not sterile, her partner was not known to be sterile, and she had vaginal sex with a male, drank any alcohol, and did not use birth control in the past month.

Women can:

  • Talk with their healthcare provider about their plans for pregnancy, their alcohol use, and ways to prevent pregnancy if they are not planning to get pregnant.
  • Stop drinking alcohol if they are trying to get pregnant or could get pregnant.
  • Ask their partner, family, and friends to support their choice not to drink during pregnancy or while trying to get pregnant.
  • Ask their healthcare provider or another trusted individual about resources for help if they cannot stop drinking on their own.

Healthcare providers can:

  • Screen all adult patients for alcohol use at least yearly.
  • Advise women not to drink at all if there is any chance they could be pregnant.
  • Counsel, refer, and follow up with patients who need more help.
  • Use the correct billing codes so that alcohol screening and counseling is reimbursable.

FASDs are completely preventable if a woman does not drink alcohol during pregnancy.

Continue reading

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NIH scientists discover genetic cause of rare allergy to vibration

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3d ChromosomeFrom the National Institutes of Health

Scientists at the National Institutes of Health have identified a genetic mutation responsible for a rare form of inherited hives induced by vibration, also known as vibratory urticaria.

Running, hand clapping, towel drying or even taking a bumpy bus ride can cause temporary skin rashes in people with this rare disorder.

By studying affected families, researchers discovered how vibration promotes the release of inflammatory chemicals from the immune system’s mast cells, causing hives and other allergic symptoms.

Their findings, published online in the New England Journal of Medicine on Feb. 3, suggest that people with this form of vibratory urticaria experience an exaggerated version of a normal cellular response to vibration.

“The findings from this study uncover intriguing new facets of mast cell biology, adding to our knowledge of how allergic responses occur.” — Anthony S. Fauci, M.D, Director, NIAID Director.

The study was led by researchers at the National Institute of Allergy and Infectious Diseases (NIAID) and the National Human Genome Research Institute (NHGRI), both part of NIH. Continue reading

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Gene’s effect on brain connections may play role in schizophrenia, study

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Suspect gene may trigger runaway synaptic pruning during adolescence

From the National Institutes of Health

Versions of a gene linked to schizophrenia may trigger runaway pruning of the teenage brain’s still-maturing communications infrastructure, NIH-funded researchers have discovered.

“Normally, pruning gets rid of excess connections we no longer need, streamlining our brain for optimal performance, but too much pruning can impair mental function,”

The site in Chromosome 6 harboring the gene C4 towers far above other risk-associated areas on schizophrenia’s genomic “skyline,” marking its strongest known genetic influence. The new study is the first to explain how specific gene versions work biologically to confer schizophrenia risk. — Psychiatric Genomics Consortium

People with the illness show fewer such connections between neurons, or synapses.  The gene switched on more in people with the suspect versions, who faced a higher risk of developing the disorder, characterized by hallucinations, delusions and impaired thinking and emotions.

“Normally, pruning gets rid of excess connections we no longer need, streamlining our brain for optimal performance, but too much pruning can impair mental function.”

“Normally, pruning gets rid of excess connections we no longer need, streamlining our brain for optimal performance, but too much pruning can impair mental function,” said Thomas Lehner, Ph.D., director of the Office of Genomics Research Coordination of the NIH’s National Institute of Mental Health (NIMH). “It could help explain schizophrenia’s delayed age-of-onset of symptoms in late adolescence/early adulthood and shrinkage of the brain’s working tissue. Interventions that put the brakes on this pruning process-gone-awry could prove transformative.” Continue reading

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A sick newborn, a loving family and a litany of wrenching choices

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By Jenny Gold
KHN

SAN FRANCISCO — Anne and Omar Shamiyeh first learned something was wrong with one of their twins during their 18-week ultrasound.

The technician was like, well there’s no visualization of his stomach,” said Anne. “And I was like, how does our baby have no stomach?”

It turned out that the baby’s esophagus was not connected to his stomach. He also had a heart defect. At the very least, he was likely to face surgeries and a long stay in intensive care. He might have lifelong disabilities.

This was only the start of an eight-month ordeal for the Shamiyeh family. Continue reading

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Pediatricians recommend individualized counseling for parents of extremely premature infants

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Premature infant's tiny hand being held By Jenny Gold
KHN

For the tiniest infants — those born before 25 weeks in the womb — survival is never guaranteed, and those who make it may be left with severe disabilities.

These micro-preemies are born in what’s known as the “grey zone.”  Whether or not to resuscitate them depends on the decisions made by individual hospitals, doctors and parents. Decisions can vary greatly even among hospitals in the same area.

A new statement from the American Academy of Pediatrics aims to improve the way those decisions are made. The statement suggests that doctors individualize counseling for parents based on the particular baby’s chances of survival and the family’s goals for their child. Continue reading

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UW scientists, biotech firm may have cure for colorblindness | The Seattle Times

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EyeJay and Maureen Neitz, husband-and-wife scientists who have studied the vision disorder for years, have arranged an exclusive license agreement between UW and Avalanche Biotechnologies of Menlo Park.

Together, they’ve found a new way to deliver genes that can replace missing color-producing proteins in certain cells, called cones, in the eyes.

via UW scientists, biotech firm may have cure for colorblindness | The Seattle Times.

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States reluctant to regulate fertility services

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IVF egg thumbBy Michael Ollove
KHN

The Utah legislature took a step last week into territory where state lawmakers rarely tread.

It passed a law giving children conceived via sperm donation access to the medical histories of their biological fathers. The law itself stirred no controversy. The oddity was that the legislature ventured into the area of “assisted reproduction” at all.

Assisted reproductive technology (ART) helps infertile couples to conceive. Compared to many other industrialized nations, neither the U.S. nor state governments do much to oversee the multibillion-dollar industry.

“The United States is the Wild West of the fertility industry.”

“The United States is the Wild West of the fertility industry,” Marcy Darnovsky, executive director of the Center for Genetics and Society said, echoing a description used by many critics of the regulatory environment surrounding ART. Continue reading

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Quantifying the ‘Angelina Jolie effect’

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Actress’ impact on genetic testing for breast, ovarian cancer is ‘global and long lasting’

Angelina Jolie - Photo courtesy of the UK Foreign and Commonwealth Office

Angelina Jolie – Photo courtesy of the UK Foreign and Commonwealth Office

By Mary Engel / Fred Hutch News Service

Sept. 18, 2014

The so-called Angelina Jolie effect not only is real but has been “global and long lasting,” leading to a twofold increase in the number of women getting genetic testing to help determine their risk for hereditary breast cancer, according to new studies from the United Kingdom and Canada.

The number of women found to have a genetic mutation that increased their risk also has doubled.

And contrary to concerns that women at low risk for hereditary breast cancer would flood testing centers, researchers said that those being tested are women like Jolie who have a family history of breast cancer or who have personal risk factors such as ethnicity.

Certain ethnic groups, including Ashkenazi Jews, have a higher prevalence of BCRA mutations, which significantly increase breast cancer risk.

Women got the correct message

“What surprised us was that we didn’t get the worried well,” said Dr. Andrea Eisen, head of preventive oncology for breast cancer care at the Sunnybrook Odette Cancer Centre in Toronto and an author of the Canadian study, in a phone interview.  “We got women who got the correct message. That was gratifying.”

Jolie disclosed in a May 2013 op-ed in The New York Times that she had undergone a preventive double mastectomy after finding that she carries the rare BRCA1 gene mutation, which dramatically raises her risk of breast and ovarian cancers. Continue reading

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Women’s Health – Week 36: Pelvic Floor Disorders

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tacuin womenFrom the Office of Research on Women’s Health

The term pelvic floor refers to the group of muscles and connective tissue that form a sling or hammock across the opening of a woman’s pelvis.

These muscles and tissues keep all of your pelvic organs in place so that the organs can function correctly.

A pelvic floor disorder occurs when your pelvic muscles and connective tissue in the pelvis is weak due to factors such as genetics, injury, or aging. Continue reading

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New study again finds higher rate of rare neurological birth defects in central Washington

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Washington MapA new study has again found a higher rate of a rare neurological birth defect, anencephaly, in Yakima, Benton and Franklin counties, Washington state health officials said Tuesday.

The study identified seven cases of the birth defect in these three counties in 2013, which translates into a rate of 8.7 per 10,000 births. That rate is similar to the rate seen in 2010-2012 and remains well above the national rate of 2.1 per 10,000 births, health officials said. Continue reading

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Insurers question value of some genetic tests

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3d Chromosome with DNA visible insideBy Michelle Andrews

The day when a simple blood test or saliva sample can identify your risk for medical conditions ranging from cancer to Alzheimer’s disease seems tantalizingly close.

But while advances in genetic testing increasingly give people critical information that may help prevent disease, genetics experts say sometimes the hype around these tests has outstripped the science.

Insurers, meanwhile, generally only cover tests if there’s strong scientific evidence that it can provide a health benefit to patients.

“The utility of some tests is not as clear as we’d like to think,” says Sharon Terry, president and CEO of the Genetic Alliance, an advocacy organization aimed at promoting health through genetics. “These technologies are advancing at a really rapid rate, and they’ll make a big impact on health. But the data gathering you need to do to determine clinical utility is difficult.” 

Insurers don’t cover a $99 genetic test sold directly to consumers by 23andMe that provides information about more than 240 genetic health conditions and traits that the company says can help people understand their health risks and carrier status for inherited disease, among other things.

In November, the Food and Drug Administration ordered the company to stop marketing the test because the agency concluded it was a medical device and subject to FDA review and approval, which it hadn’t received. In early December, the company announced it would stop selling its health-related genetic reports while it undergoes federal review.

Insurers commonly cover many diagnostic genetic tests that are ordered by doctors, for example, tests to look for rare diseases like cystic fibrosis in infants or children.

Insurers will typically also cover preventive genetic tests if the patient meets criteria based on family history or other risk factors, and if there’s an effective test with proven clinical benefit that’s recommended by a standard-setting organization like the U.S. Preventive Services Task Force.

In such cases, insurers also typically cover genetic counseling to first collect someone’s family and personal history to determine whether that patient is a candidate for a particular genetic test, and then help patients understand their results, says Rebecca Nagy, president of the National Society of Genetic Counselors.

Coverage is generally routine, but in recent years some health plans have begun paying a declining percentage of the cost of testing, says Nagy. “Companies that were covering a test at 90 percent are now covering it at 80 percent,” she says. Testing can be pricey. A genetic test for the BRCA mutations, for example, may cost $3,000 or more.

Under the Affordable Care Act, most health plans must make genetic counseling and testing available without any out-of-pocket cost to women whose family history indicates they have a higher than average risk of having mutations in the BRCA1 or BRCA2 genes that predispose women to breast and ovarian cancers. The ACA prevention coverage requirements are based on recommendations by the U.S. Preventive Services Task Force, which doesn’t recommend other preventive genetic tests.

Women frequently request genetic testing for breast cancer mutations because they believe their risk is higher than it is, say experts.

This is particularly true since the actress Angelina Jolie disclosed that she had a double prophylactic mastectomy to guard against breast cancer after learning she has a mutation in the BRCA1 gene.

But if a woman’s only family history of the illness is one relative who developed breast cancer at age 65, for example, that, by itself, doesn’t mean she’s at higher risk, says Nagy. With counseling, “many times we can give them reassuring numbers.”

In September, health insurer Cigna began requiring genetic counseling for members who were interested in three “commonly ordered and commonly misunderstood” genetic tests, says David Finley, the company’s national medical officer.

The tests covered by the new requirement are those for the BRCA mutations for breast and ovarian cancers, colorectal cancer and Long QT syndrome, an inherited heart condition that can cause sudden, potentially fatal heart arrhythmias.

Doctors who order these tests don’t necessarily suggest patients receive genetic counseling, even though national organizations recommend it, says Finley.

“From our perspective, the only way to make sure that patients are getting the information and taking the time that they need about these tests is to require that they see a genetic counselor,” he says.

Like other insurers, Cigna typically doesn’t cover genetic tests that don’t provide clinical benefit to the patient. “You don’t test for testing’s sake,” says Susan Pisano, a spokesperson for America’s Health Insurance Plans, a trade group.

One of the tests insurers generally don’t cover identifies which of three versions of the APOE gene someone carries. The APOE gene is associated with late-onset Alzheimer’s disease, and someone with two so-called “e4” versions of the gene is at higher risk of developing the disease.

“[The APOE test] is ordered fairly frequently, but we don’t pay for it,” says Cigna’s Finley. “It’s not enough for a test to be accurate and scientifically reliable, it has to benefit the patient. And with the APOE test I don’t think they’ve met those standards.”

This article was reprinted from kaiserhealthnews.org with permission from the Henry J. Kaiser Family Foundation. Kaiser Health News, an editorially independent news service, is a program of the Kaiser Family Foundation, a nonpartisan health care policy research organization unaffiliated with Kaiser Permanente.

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Twitter chat on pregnancy and childbirth with Group Health’s Dr. Jane Dimer, Tuesday, December 10

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hashtagJane Dimer, MD – an OB/GYN and chief of Women’s Services for Group Health – on Tuesday, Dec. 10 from 12-1 pm for an hour-long Twitter chat on pregnancy and childbirth. Dr. Dimer will be covering a variety of topics from getting pregnant to delivery, and answering your questions.

Topics will include:

  • Preparing your body for pregnancy
  • Nutrition
  • Is this normal?
  • Pregnancy myths
  • Making a birth plan
  • Delivery
  • Back to work/breastfeeding

When: Tuesday, Dec. 10 from 12-1 pm

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Lack of eye contact in early infancy may be sign of autism, study

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From the National Institutes of Health

Eye contact during early infancy may be a key to early identification of autism, according to a study funded by the National Institute of Mental Health (NIMH), part of the National Institutes of Health.

Published this week in the journal Nature, the study reveals the earliest sign of developing autism ever observed — a steady decline in attention to others’ eyes within the first two to six months of life.

“Autism isn’t usually diagnosed until after age 2, when delays in a child’s social behavior and language skills become apparent. This study shows that children exhibit clear signs of autism at a much younger age,” said Thomas R. Insel, M.D., director of NIMH. “The sooner we are able to identify early markers for autism, the more effective our treatment interventions can be.”

autism eye

Decline in eye fixation reveals signs of autism present already within the first 6 months of life. Data from a 6-month-old infant later diagnosed with autism are plotted in red.

Data from a typically developing 6-month-old are plotted in blue. The data show where the infants were looking while watching a video of a caregiver. Source: Warren Jones, Ph.D., Marcus Autism Center, Children’s Healthcare of Atlanta, and Emory University School of Medicine.

Typically developing children begin to focus on human faces within the first few hours of life, and they learn to pick up social cues by paying special attention to other people’s eyes.

Children with autism, however, do not exhibit this sort of interest in eye-looking. In fact, a lack of eye contact is one of the diagnostic features of the disorder.

To find out how this deficit in eye-looking emerges in children with autism, Warren Jones, Ph.D., and Ami Klin, Ph.D., of the Marcus Autism Center, Children’s Healthcare of Atlanta, and Emory University School of Medicine followed infants from birth to age 3.

The infants were divided into two groups, based on their risk for developing an autism spectrum disorder. Those in the high risk group had an older sibling already diagnosed with autism; those in the low risk group did not.

Jones and Klin used eye-tracking equipment to measure each child’s eye movements as they watched video scenes of a caregiver. The researchers calculated the percentage of time each child fixated on the caregiver’s eyes, mouth, and body, as well as the non-human spaces in the images. Children were tested at 10 different times between 2 and 24 months of age.

By age 3, some of the children — nearly all from the high risk group — had received a clinical diagnosis of an autism spectrum disorder. The researchers then reviewed the eye-tracking data to determine what factors differed between those children who received an autism diagnosis and those who did not.

“In infants later diagnosed with autism, we see a steady decline in how much they look at mom’s eyes,” said Jones. This drop in eye-looking began between two and six months and continued throughout the course of the study.

By 24 months, the children later diagnosed with autism focused on the caregiver’s eyes only about half as long as did their typically developing counterparts.

This decline in attention to others’ eyes was somewhat surprising to the researchers. In opposition to a long-standing theory in the field — that social behaviors are entirely absent in children with autism — these results suggest that social engagement skills are intact shortly after birth in children with autism. If clinicians can identify this sort of marker for autism in a young infant, interventions may be better able to keep the child’s social development on track.

“This insight, the preservation of some early eye-looking, is important,” explained Jones. “In the future, if we were able to use similar technologies to identify early signs of social disability, we could then consider interventions to build on that early eye-looking and help reduce some of the associated disabilities that often accompany autism.”

The next step for Jones and Klin is to translate this finding into a viable tool for use in the clinic. With support from the NIH Autism Centers of Excellence program, the research team has already started to extend this research by enrolling many more babies and their families into related long-term studies.

They also plan to examine additional markers for autism in infancy in order to give clinicians more tools for the early identification and treatment of autism.

Grant: R01MH083727

About the National Institute of Mental Health (NIMH): The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery, and care. For more information, visit http://www.nimh.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

NIH…Turning Discovery Into Health®

Reference

Jones W, Klin A. Attention to eyes is present but in decline in 2-6-month-old infants later diagnosed with autism. Nature, Nov. 6, 2013.

 

 

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