Human Genetics, a Prediction

A new spring with new colors. While at the moment of writing this, the spring still holds its promises for a while, the new version of the European Journal lies in front of you. In a larger format, with a novel outlook, offering twice the publication space, but representing your same ESHG and without increase in membership charge.

As the new Editor-in-Chief, my first task is to thank my predecessor and founder of the EJHG, Professor Giovanni Romeo, for his great enthusiasm and enormous efforts in establishing the EJHG and for successfully hounding the editorial board and other colleagues for contributions in the competitive field of Human Genetics Journals. The European Society of Human Genetics is greatly indebted to him, since the establishment of a journal is the most crucial period of its life, while its existence is — and will continue to be — a major binding factor in the ESHG.

Initially, the EJHG appeared quarterly. Last year, with the financial aid of our publisher, Karger, the frequency was increased to bimonthly, to reduce turnaround time of manuscripts and raise the capacity. Now, we have enlarged the format, allowing us to cope with a yet increased flow of good manuscripts. Further logistical streamlining should reduce processing time down to 2–3 months in the course of this year. In the future we aim to appear on a monthly basis. The path toward this goal will greatly depend on the willingness of you, as our readers and authors: By contributing interesting manuscripts you will assist us in making both the journal and the ESHG membership even more attractive.

Where will we go with genetics, and what will be the role of the EJHG? The economist Keynes has stated before that ‘Predicting is difficult, especially when it concerns the future’. Nonetheless the current trends in human genetics do allow some projections:

Many of the major monogenic disorders have been traced back to their culprit defective gene(s). Boosted by the advances of the Human Genome Project, scores of rare monogenic disorders are presently following suit. A quantum leap in the facilitation of research is caused by the EST (‘Expressed Site Tag’) initiatives, which will shortly lead to comprehensive gene index databases. For the clinically interested, this will take the tedium out of piecing together candidate genes by arduous local cloning and sequencing efforts. This will be replaced by sending short sequences across networks and receiving back complete genes, to study in patient material. Predictably, the ‘high-profile’ journals will not be able to cope fully with the flow of discoveries, however interesting. Even nowadays a single person cannot possibly keep track of the rising tide of findings condensed to 1–2 page letters. The EJHG sees it as its task to provide a continued forum for detailed communications on the clinical and molecular genetics of human disease.

Incidentally, one should not be misled by the term ‘rare disease’. The molecular etiology of several of the rarest of disorders have clarified central pathways in biology and provided vital clues to understand common disease. Charting unknown territory just requires a substantial amount of open-minded, nonhypothesis-driven basic research, to improve general understanding. This is not popular in the current times of budget cuts and strong emphasis on clinical relevance. Journals, societies and individual scientists have a task in explaining to funding agencies and industry that one should not economize on the foundation of a building in order to make the building higher.

Despite the might which is frequently attributed to it by the media, Human Genetics nowadays is still more about improved insight and diagnosis. The profession will only really grow up when the third element of health care has materialized: Better therapies, or therapy at all. Be it gene therapy or pharmacological intervention, for the maturation of both we will still need a lot of basic and applied research: Patient-oriented and genetic epidemiological research into the functional implications of gene defects and the genotype-phenotype relationship, amongst others to predict better the course of disease. Basic and applied research on cellular, animal and ultimately human systems to establish and evaluate methods of intervention. Whatever findings fall in one of these areas and provide novel, broader or deeper insights, are welcome contributions to the EJHG.

Another area of which to expect much in the coming years is that of common multifactorial disease. Second- and third-generation linkage software, combined with the availability of a dense network of highly informative genetic markers, have greatly improved the signal-to-noise ratio of statistical genetics. Hence even minor gene contributions to disease can now be dissected. Largescale automated haplotyping and a judicial choice of populations will most likely bring the dissection of genetic constituents of diabetes, cardiovascular disease, hypertension, rheumatoid arthritis, Parkinson and many other chronic or progressive neurological and immunological ailments. We will see the re-entry of population genetics, a field which many human geneticists were all too happy to leave behind a decade or so ago, for the power of the bands on the blots. The ‘new population genetics’ however, will have a tremendous statistical power — and hence resolution. Only the absolute highlights of this area will make the headlines, but there will be a wealth of stimulating ideas and intriguing findings to exchange. Once again, the EJHG is at your service.

Finally, the advances in molecular genetics have had major impact on individual and societal level. Refined diagnosis, more options to choose from in a visit to the clinical geneticist, often with the consequences of the choices not yet well defined and with the most preferred option — therapeutic intervention — unavailable. The charting of this territory has only just begun, while it is of paramount importance to bring the optimal benefit of our advances to the public. The EJHG will gladly assist in improving navigation in these waters by publishing studies on psychosocial, societal, ethical, economical and legislative nature, when properly oriented to a wide genetics readership.

In short, topics abound and publication space enough. I extend a wholehearted welcome to the geneticists worldwide to submit their findings to the EJHG.