ISNS International Society For Neonatal Screening

Membership

 

 

 

Our vision: ISNS is recognized worldwide for its contributions to the detection of neonatal conditions and the prevention of their adverse outcomes through excellence in neonatal screening.

Our mission:  To enhance the quality of testing and medical services through dissemination of information, guidelines and best practices that benefit all family members and their babies by helping to ensure protection of babies from life-quality threatening conditions.

 

Welcome !

Welcome to the website of the International Society for Neonatal Screening (ISNS).
This society is aiming to advance screening for neonatal and infant sicknesses and disorders, worldwide.
ISNS has around 350 members in more than 70 different countries. Most members have a professional (para)medical background but a few are involved in parents' or patients' organisations.

For more information about ISNS visit the ISNS-Info section.

ISNS welcomes new members who have demonstrated an active interest in neonatal screening.

Why should I join as a member?

As a member you are entitled to see the privileged pages containing specific news items, a monthly neonatal screening literature service and a discount to ISNS-related conferences. Under certain conditions you may apply for travel grants to such conferences. Having access to the on line membership directory you have easier access to other members sharing specific interests.

How do I become a member?

Please read the Membership-info section (see above) and subsequently click on the button "Member subscribe"

  • News
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Mr Kevin Alexander M.A. recently launched some new programming for his website, PKULife.tv. He plans to be producing a video every month, sharing interviews and stories with experts and those with PKU. All of the content will be free to view thanks to my sponsor, PKU Perspectives. The video released on April 3 is called How to Maintain a Good Relationship with your PKU Clinic:  http://www.pkulife.tv/2014/04/02/video-how-to-maintain-a-good-relationship-with-your-pku-clinic/
 
 
Most videos will focus specifically on PKU, but from time to time other issues that affect rare diseases in general or newborn screening will be mentioned.
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Kevin Alexander, M.A.
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PKULife.tv Producer
+1 318-344-4308
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China imposes restrictive regulation of genetic testing
 
China’s Food and Drug Administration (CFDA) has acted to impose regulatory constraints on the provision of clinical genetic tests. The announcement appeared vague as although the ban on prenatal DNA testing is unambiguously stated, it is not known whether the ban would apply to other kinds of testing as well (for e.g. screening/testing for cancer). In effort to uphold the ban, CFDA has also prohibited the continuance of all current projects except those approved by the government relating to clinical genetic testing. They will now require all related medical devices to be licensed by the government “before they can be manufactured, imported, sold or used, potentially covering the world’s most popular gene-sequencing equipment, made by San Diego-based Illumina, Inc”. There is also an overwhelming possibility that this move could significantly restrict the efforts of the Chinese genome sequencing giant Bejing Genomics Institute (BGI).

It is speculated that China is anxious to prevent potential abuses of genetic testing, especially prenatal testing and this extreme measure is to ascertain that the rise in the new testing capacity, especially non-invasive prenatal testing (NIPT) techniques does not “hamper social and ethical values and ‘human heredity resources’ are protected. However, banning prenatal DNA testing especially, affects the Chinese population looking to have children due to the strict policies on the number of children they are allowed so it is of paramount importance that the children that are born are healthy. It is also speculated that this move is to curb the gender inequality in China which remains a huge concern, due to parents preferring a males over females for children, even though sex determination is routinely performed by an ultrasound scan and not genetic testing.
Read the article on PHG Foundation
Read the article on Forbes.com
Go to the CFDA website

(source: Orphanews April 1, 2014)

 

China Bans Genetic Testing

Sudden Freeze Raises Concerns of a Chill Over Future Research

By: Alex Philippidis

For nearly a half-century, interrupted only by the Cultural Revolution, China promoted the growth of genetic testing to prevent and address birth defects through state-run hospitals, as well as charities and increasingly in recent years, private enterprises.

Then in February, China reversed course.

The China Food and Drug Administration posted a new regulation that immediately banned genetic testing—even previously approved services “including prenatal genetic testing, gene sequencing technology-related products, and cutting-edge products and technologies.” The far-ranging ban applies to “all medical technology applications requiring detection equipment, medical diagnostic reagents, and related software; and other products, such as for disease prevention, diagnosis, care, treatment, monitoring, health status evaluation, and prediction of genetic diseases,” according to a translation of the directive via Google Translate.

The regulation also requires government “registration” or licensing or all devices used in genetic testing before their “manufacture, import, sale, and use” is allowed in China.

While some tools long approved by the state, such as polymerase chain reaction (PCR) equipment, can still be used, the testing freeze has raised concerns that it may hinder cutting-edge genetic research at a time when its spread into medical practice has been encouraged in the West.

“There wasn’t any information released before the new regulation came out. Everybody got shocked,” Nanbert Zhong, M.D., an investigator with Peking University Center of Medical Genetics, Shanghai Children’s Hospital, and head of the Developmental Genetics Laboratory at the New York State Institute for Basic Research in Developmental Disabilities, told GEN. “Everything has stopped. Everything involved in sequencing using machines that have not been approved has been stopped. No one has an idea when it’s going to be reopened. “This is really a pity to the field,” Dr. Zhong added.

He could not confirm unofficial speculation that China may continue at least some genetic testing on a pilot basis through the creation of three sites nationwide.

Cost and Ethics Challenges

China appears interested less in curbing genetic testing than in controlling who can carry it out, and perhaps in how to pay for it as well. While the world’s most populous nation has only lately caught up to the West in genetic services—BGI- Shenzhen has expanded into a leader in genome sequencing, especially after acquiring Complete Genomics last year for $117.6 million—China has long promoted genetic prenatal testing.

“They have simply hit the pause button to ensure that the appropriate safeguards are in place, not to limit the progress of genetic testing,” Jeremy Gruber, J.D., president and executive director of the Council for Responsible Genetics, told GEN. “There has been a lot of testing going on prenatally that neither was approved nor subject to enough rigorous scrutiny to ensure that it was reliable.”

Gruber said that in citing ethics, privacy, safety, and protection of human genetic resources as grounds for regulating testing, “China is actually voicing these concerns in a more substantive way than they even are in the U.S.,” where government has left ethical questions to be debated among bioethicists and other academics rather than seeking to settle the issues through regulation.

Another challenge for China as it regulates genetic testing, Gruber said, is how the state-run healthcare system can pay for the wide variety of services: “With the proliferation of genetic testing starting to happen in China without any type of regulation in terms of what is appropriate and what is not, there are also financial considerations in terms of what the state is prepared to pay for. I suspect that might also be a factor.”

Control and Culture

China’s challenge of exerting control over genetic testing is made harder by the spread of technologies from research labs to medical practices—a challenge hinted at in the regulation, which states: “Currently, gene sequencing technology-related products and laboratory research has evolved into clinical use, for which the relevant departments of the State Council attach great importance.”

That importance has heightened since China announced in November that it relaxed its strict one-child-per-couple rule, whose legacy combined with the society’s traditional preference for healthy sons effectively encouraged gender selection by parents, and a resulting shortage of girls and young women.

China has shown it will use state muscle to combat gender selection. In January, the leader of a “gang” that conducted more than 1,000 illegal sex-determination tests via amniotic fluid extraction nationwide last year was sentenced to three and a half years in prison, the National Health and Family Planning Commission announced. The authorities broke the testing “ring” following the death of a woman from amniotic fluid embolism following a 2012 test, according to a January 20 report in state- owned China Daily.

At the time, according to the article, China allowed sex-selective procedures enabled by assisted reproductive technology when carried out for medical purposes such as testing for genetic diseases—but prohibited sex determination testing, gender- selective procedures, and abortions for nonmedical purposes, in hopes of bridging the national gender gap.

“Unrestricted access to prenatal genetic testing could further exacerbate this problem, so the new restriction of clinical gene sequencing applications to pilots approved by the National Health and Planning Commission (the Chinese population control authority) may be highly significant,” Ron Zimmern, FRCP, FFPHM, chairman of the PHG Foundation co-wrote in a March 11 commentary co-authored with Philippa Brice, Ph.D., PHG’s communications director.

Dr. Brice told GEN another cultural norm helped explain the growth of genetic testing in China—that of favoring healthy children over those with disabilities. “Essentially, having a child with disabilities or health problems is of increased concern if you are restricted to only one child, as many still are,” explained Dr. Brice. “In addition, it is often considered to be a shameful thing for the wider family.”

Genetic Services Gap

The genetic testing ban comes less than a year after Dr. Zhong and three colleagues published a study detailing the genetic services available in China, and the challenges the state faces in ensuring those services become as available in poorer rural areas as in more affluent cities.

The study, published April 18, 2013, in the Journal of Community Genetics, identified 11 types of genetic testing services available in China before the ban: pre- implantation and prenatal genetic diagnosis; newborn and genetic screening; carrier, diagnostic, predictive, and pharmacogenetic testing; molecular testing for viral infections, genetic counseling services, and abortion.

Indeed in 2012, China committed itself to offering comprehensive genetic services nationwide, including rural areas, by building up a network of testing providers aimed at combating birth defects—the most common of which, as of 2011, was congenital heart disorder. At the time, China’s health ministry cited a rise in defects detected in the first seven days of newborns’ lives, but said pollution and unhealthy habits were more to blame than genetics.

Dr. Zhong and colleagues concluded that birth defects and other health problems should be addressed through wider access to genetic testing and more trained professionals. They urged China’s national government to provide more financial and technical support to less-developed areas; deliver services through medical genetics “occupation groups” consisting of medical geneticists, genetic counselors, diagnostic laboratory personnel, and support staff; “speed up the approval process for molecular diagnosis and encourage the positive activities of the patient organizations; and promote direct research support in medical/clinical genetics.”

“The big gap between China and well-developed countries in genetic services cannot be filled in a short period of time, but it is widely believed that strong governmental support can effect rapid changes to benefit all of the people,” Dr. Zhong and his co- authors concluded.

Just last year, for example, China promoted molecular testing as part of a pilot project to combat rare diseases. It’s too early to say whether the genetic testing ban is a great leap backward or simply a tactical retreat pending the writing of new rules that balance innovation with ethics. The sooner China develops testing standards that enable genetic testing to resume subject to safety and privacy standards, the better not only for researchers eager to advance knowledge, but especially for clinicians and their patients.

(source: Dr  Brad Therell)