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 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 (see above).
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"
ISNS publishes its own journal, please see http://www.mdpi.com/journal/neonatalscreening
Worldwide members per November 1, 2015
375 members in 73 countries.
Countries with at least one member are shown in blue-grey, others in green.
The progress in whole genome sequencing technology has been gaining ground leading to a significant decrease in both the cost and time needed to generate data on the entire sequence of the human genome and an increase in accessibility especially for newborn screening programs (NBS). An article published in European Journal of Human Genetics describes the impact this will have on the potential use of this technology in publicly funded newborn screening programmes. The article presents a statement from The Public and Professional Policy Committee of the European Society of Human Genetics, the Human Genome Organisation Committee on Ethics, Law and Society, the PHG Foundation and the P3G International Paediatric Platform reviewing the current scenario and issues “a set of recommendations to help inform and guide scientists and clinicians, as well as policy makers”. These recommendations include
• The primary objective of genome sequencing in NBS should be prevention and or treatment
• There should be robust evidence base to conduct these screenings
• Cost-effectiveness studies to ensure proper implementation and monitoring are imperative
• Open dialogue between stakeholders holds the key to advance engagement
• Necessary information should be provided to parents at all stages
• Particular attention should be paid to educating health care professionals on this topic
• A properly thought out plan for the future of the stored data should is required
• Unsolicited findings which lead to a preventable or treatable health problem should be communicated
Read the PubMed abstract
(source: Orphanews 270116)
The 9th Rare Disease Day will take place on the 29 February 2016, to raise awareness for rare diseases. Thousands of events will take place around, reaching a record number of people living with a rare disease and their families. EURORDIS has put together a website - RareDiseaseDay.org- that provides useful information on how you can participate. The 2016 slogan Join us in making the voice of rare diseases heard appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases. This years’ theme Patient Voice recognises the crucial role that patients play in voicing their needs and in instigating change that improves the lives of patients and their families.
EURORDIS and partners will hold a two day multi-stakeholder symposium on improving patient access to rare disease therapies in Brussels on 24 - 25 February, 2016, which will also be live streamed on eurordis.org. The EURORDIS Awards 2016 ceremony will be held in Brussels on 23 February, 2016. This Rare Disease Day, Join us in making the voice of rare diseases heard and help towards amplifying the Patient Voice all over the world!
(source: Orphanews Jan 12, 2016)
Cystic fibrosis (CF) occurs less frequently in nonwhites than in whites, and nonwhites tend to be diagnosed at a later age. This late diagnosis often comes only once they have become symptomatic, rather than through newborn screening programs or molecular diagnostic testing. Delaying diagnosis can result in postponed treatment and clinical deterioration. A new study in The Journal of Molecular Diagnostics found that one reason for this ethnic disparity in CF diagnoses is that the variants examined in the most common CF newborn screening panels do not sufficiently include the variants present in nonwhite populations.
"We think that this information can be used to optimize newborn screening programs, taking into account the ethnic composition of state populations, resulting in earlier diagnosis and intervention, timely clinical treatment, and enhanced prognosis," explained Iris Schrijver, MD, professor of pathology and, by courtesy, of pediatrics at the Stanford University School of Medicine, and director of the Stanford Molecular Genetic Pathology Service, Stanford, CA. "We believe it could propel equity in mutation detection for white and nonwhite CF patients."
As part of the study at Stanford University, the investigators examined CFTR genotyping of CF individuals in the CF Foundation Patient Registry across different racial and ethnic groups, including non-Hispanic whites (22,206), Hispanics (1,955), blacks (1,214), Asians (156), and Native Americans (171). Mutations in the 27-exon CFTR gene that encodes the CF transmembrane conductance regulator (CFTR) underlie CF. Disruption of CFTR production and/or function affects chloride ion channels and thus interferes with the transport of electrolytes. This defective ion transport in the respiratory tract leads to less airway surface liquid and the formation of thick and sticky airway secretions that block lung passages. Individuals with CF may also have higher than normal levels of salt in their sweat.
The researchers found that 90% of white patients and 83% of Native Americans with CF have a particular mutation (p.Phe508del), and about half of these individuals have two copies of these mutations. However, they found that 30% of Hispanics, 38% of blacks, and 41% of Asians did not even have one copy of the mutation. Patients of Hispanic, black, or Asian ancestry were also less likely to have two identified CFTR variants. "Our results confirm the widely held notion that the American College of Medical Genetics and Genomics list of 23 mutations that was specifically designed for carrier screening is inadequate for diagnostic testing, even though it is used widely," commented Dr. Schrijver. When the investigators compared Registry results from 2008 to 2013, they documented that genetic analyses were reaching greater proportions of CF individuals. For instance, in 2008 21% of whites were not yet genotyped compared to 9% in 2013. Although similar trends were observed across all ethnic groups, significantly greater proportions of individuals in nonwhite ethnic groups remained not yet genotyped compared to whites (e.g., 19% of blacks versus 9% of whites).
To learn more about the spectrum of CTFR variants in nonwhite individuals, the investigators used direct DNA sequencing to study 140 individuals in the Registry. They found that 89 had two CFTR variants, including seven novel ones. Multiplex ligation-dependent probe amplification (MLPA) detected 14 rearrangements in the remaining 51 patients, six of which had not been described before. Because the investigators found that deletions and duplications were relatively common in the nonwhite CF patients, yet many were not previously reported, they suggest that testing should be expanded to include MLPA analysis. CF, an inherited life-threatening disorder, affects the exocrine epithelial cells of multiple tissues and organs. Serious pulmonary problems occur, including chronic lung infections and airway inflammation. Other symptoms include failure to thrive, pancreatic insufficiency, infertility, and bowel obstruction. Its prevalence is approximately 1:2500 in whites, 1:15,000 in blacks, 1:35,000 in Asians, and 1:10,900 in Native Americans.
To view the paper cited above, please visit http://www.sciencedirect.com/
(source: APHL office)