This text provides a brief history of ISNS and is based on previous publications, Naruse (2003), Therrell et al. (2003), and Loeber (2007).
Soon after the initial years of screening for phenylketonuria in the early 1960s international meetings were organised at regular intervals. The first one was held in Dubrovnik (former Yugoslavia) in 1966, followed by meetings in Tel Aviv (Israel, 1969), Warsaw (Poland, 1972), Heidelberg (Germany, 1978), Tokyo (Japan, 1982) and Austin (Texas-USA, 1986). Because screening was innovative and flourishing, each subsequent meeting was attended by more participants from more countries. Screening dried blood spots for phenylketonuria and congenital hypothyroidism required the development of new quality control parameters. In 1987 Dr.Hiroshi Naruse organised a small scale Quality Control meeting in Japan and it was then that Dr.Ian Lyon (New Zealand) first suggested forming an international society. Dr.Naruse was elected president and Dr.Brad Therrell secretary-treasurer. The first business in the builidng of an ISNS structure was the creation of a constitution, the establishment of a secretariat and the dispatch of a newsletter, which joined with the already existing periodical Infant Screening. The following year (1988) marked the first business meeting during the 7th international meeting in Sao Paulo (Brazil). The 8th international meeting in Leura (New South Wales-Australia, 1991) was renamed the first ISNS International meeting. Drs. Naruse and Therrell were re-elected to serve another term and ISNS was rolling.
Neonatal screening is a discipline that interacts with many existing disciplines, such as clinical chemistry, clinical microbiology, pediatrics, genetics and psychology, but it is small and often considered to be subordinate. Hence it was (and still is) difficult to get papers describing the newest developments published in the well established journals. Possibilities to create and maintain a specific screening journal were investigated and after some years, a contract with Elsevier publishers was established.
Similarly, the number of persons specifically interested in neonatal screening was only about 200 worldwide. The frequent organisation of international meetings all over the world would not be feasible in view of the relatively high travel cost for a small group professionals, and that regional meetings would better serve the neonatal screening community. The first of a series of meetings were organised in the Asian Pacific region (1993) and in the Latin Amercan region (1997). Since then these regional meetings have been held at regular intervals in various countries. The North American region started such meetings in the US a few years earlier. Regional meetings in Europe began in 2001 and the Middle East-North African region held its first meeting in 2006.
Subsequent ISNS international meetings were held in Lille (France, 1993), Boston (USA, 1996), Stockholm (Sweden, 1999), Genoa (Italy, 2002) and Awaji (Japan, 2006). The attendance at these meetings averaged about 400 professionals. Because of the increasing number of , national and regional neonatal screening conferences, it was decided to discontinue with separate international meetings and to work towards meetings that were jointly organised with regional meetings. The first jointly held ISNS meeting was in Cancun (Mexico,2009), with the Latin American Society, followed by the meeting in Atlanta ( USA 2013) with the Association of Public Health Laboratories (USA).
At the 1993 meeting Dr.Therrell (USA) assumed the presidency and he was assisted by a Council consisting of 5 persons from various parts of the world. In 1999 Prof Bridget Wilcken ( Australia) was elected as president and a new and extended constitution was adopted. In that year ISNS was incorporated in The Netherlands as a society under Dutch law. The Council was expanded to 11 members with global representation proportional to the number of members per region.
In subsequent international meetings Prof Jean Louis Dhondt (France, 2002), Dr. J.Gerard Loeber (The Netherlands, 2006), Dr Ken Pass (USA, 2009) and Dr.Veronica Wiley (Australia, 2013) were elected as president, respectively.
Because of the administrative burden of repeatedly changing the locations of the secretariat and treasury, also in view of the increasing security demands of international payments, in 2012 ISNS decided on the establishment of a semi-permanent “office” in Bilthoven, The Netherlands, from which the day-to-day business is handled. It was felt necessary to review and renew the Constitution from 1999 and to add a list of Bylaws. These texts are available on the ISNS website (www.isns-neoscreening.org).
The ISNS Journal “Screening” unfortunately proved not to be a success and the contract with Elsevier was discontinued in 1996. Subsequently, collaboration was sought with the editors of the Journal of Medical Screening. ISNS members were eligible for a discount on the annual subscription. However, this Journal appeared not to be sufficiently attractive for ISNS members for publication of screening papers. At the general business meeting in 1999 the membership decided not support another journal. Instead an ISNS website was developed under the leadership of Dr.Toni Torresani (Switzerland), which served as the source of information for the membership and as a means of communication. This website (www.isns-neoscreening.org) contains the text of the constitution as well as other basic ISNS facts, such as the composition of the present and previous Councils, and of the various committees. The members-only (password protected) pages contain an online membership directory, news items, information on meetings and a monthly updated literature service. A new website with the same URL was developed in 2013.
ISNS Lexicon and Minimum Data Set
ISNS has established a number of committees devoted to various topics. The most active committee is the Quality Assurance committee chaired by Dr. Dianne Webster ( New Zealand). This committee noted that publications by neonatal screening authors loosely used different terms for the same concept or conversely used identical terms for different concepts. Therefore it was decided that a lexicon for terms used in neonatal screening should be created, hoping to stimulate harmonisation of terminology. Similarly, a minimum data set was developed to be used in the description of screening methods.
Dried blood spot reference preparations
In 1996 expert groups in Europe (initiated by Prof Dhondt) and in the USA (led by Dr. Harry Hannon, CDC) felt the need to develop dried blood spot reference preparations for the most commonly screened biochemical analytes. Several batches were produced, first for phenylalanine and some other amino acids, then for thyrotropin, and eventually for a combination of phenylalanine, thyrotropin and 17-hydroxy-progesterone (Elvers et al. 2007). These batches were made available for manufacturers of reagent kits and intended to be used for recalibration of their in-house calibrators, in the hope of providing decreased between-kit variation. Future batches will be produced by Dr. Wiley.
To honour members with exceptional achievements in the field of neonatal screening a special award was established in 1995.. In honour of the founding father of neonatal screening this award was named the Robert Guthrie Award. In 1996 the first recipient was Dr.Naruse, who in 2002 was also elected an honorary member of ISNS in view of his valued contributions to the society. Each year since 1996 the Guthrie Award has been awarded. The website contains the names and personal details of the winners. Dr Harry Hannon (2009) and Dr Bridget Wilcken (2013) have also been elected honorary members.
To honour young and promising ISNS members and to stimulate them in their neonatal screening career, the ISNS Council established a special medal for young investigators under 40 years of age. This medal was named after the other pioneer of neonatal screening, Dr Jean Dussault and has been awarded since 2007. The website contains the names and personal details of the winners.
At present ISNS has some 380 members mainly from Europe and North America. However, neonatal screening is expanding in Latin American, Asian and Middle East/North African countries. To prevent re-inventing the screening “wheel” in those countries we encourage clinical leaders to join the ISNS and interact with colleagues from established programs. One of the policy goals is to strengthen the ISNS regions and to promote interactions within regions. In total around 70 countries are represented in the membsrhip.
Neonatal screening has become an established health care practice with proven efficacy. Developed countries are encouraged to share their knowledge and experience with developing countries, taking into account the differences in local health care infrastructure, finances and political priorities. ISNS can act as a forum and perhaps as an imtermediary. This can only be achieved by the continuous input and collaboration of all people involved.
Elvers LH, Loeber JG, Dhondt, JL, Fukushi, M., Hannon, WH, Torresani, T, Webster, D. First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17-hydroxyprogesterone in blood spots. J.Inher.Metab.Dis, 2007; 30:609
Loeber JG. International Society for Neonatal Screening, some historical notes. J.Inher.Metab.Dis. 2007; 30: 617-620
Naruse H. The development of international cooperation in newborn screening and the efforts of Bob Guthrie and Horst Bickel, SE Asian J.Trop.Med.Publ.Health 2003; 34: Suppl 3, 1-2
Therrell B, Wilcken B, Naruse H. History of the International Society for Neonatal Screening, SE Asian J.Trop.Med.Publ.Health 2003; 34: Suppl 3, 3-5