Any reason to stay in Human Genetic societies as cytogeneticists?

Thomas Liehr

Jena University Hospital, Friedrich Schiller University, Institute of Human Genetics, Jena, Germany

When joining the European (ESHG -?https://www.eshg.org/home) and our national Society of Human Genetics in Germany (Deutsche Gesellschaft für Humangenetik – GfH -?https://www.gfhev.de/) about 25 years ago, they both represented and covered the whole field of Human Genetics. This covers besides clinical genetics, syndromology, genetic counselling, chromosomes (cytogenetics and molecular cytogenetics), nuclear architecture, DNA (cloning, sequencing, imprinting, etc.), also new methodological developments. Meetings organized by these societies were not only oriented to diagnostics, research and an industrial exhibition, but also to patients; the latter was nicely highlighted by the fact that many patient-support-groups were present at these meetings.

For the past 10 years (or even more…), such meetings do not include any (molecular) cytogenetic sessions any more. At the same time, there are no patient support groups coming to these meetings! Especially the latter point is alarming for me as: For whom we do our work? – For patients! And, if the representatives of patients with genetic disorders see no reason to come to our conferences any more, something must go severely wrong in our field.

If we analyze what these meetings are about nowadays in terms of research content, it is about all possible variants of DNA-oriented, mainly sequencing approaches; it is about high-quality research on rare diseases and single gene mutations; more precisely, the technical progress of sequencing machines seems to be the main topic, yet. Chromosomes are declared not to be of interest any more, even though the recognition of topologically associating domains (TADs) and the introduction of optical genomic mapping were small signs of hope, that:

• it might be coming back to the attention of specialists that the human genome is more than (not one but) 46 long DNA-strands with possibly disease-causing genes on them.
• that there may be more than just assigning a variant in one of 5 (arbitrary) classes;
• and that in 70% of cases a genetic disease is multifactorially caused and/or by a genomic imbalance of many megabase pairs.

Unfortunately, there is more and more the attitude in the field, that each and every genetic case can be solved by sequencing alone; I know (I think, we all know…) of cases where cytogenetic results were ignored and a single gene SNP was incorrectly blamed to possibly cause the patients problems. Such problems, however, are practically no topic on Human Genetic meetings, as there are no cytogenetic sessions any more.

Overall, there are and were no attempts of GfH or ESHG to strengthen (molecular) cytogenetics. For Germany I know that all private labs doing postnatal / fertility diagnostics need cytogeneticists, like tumorgenetic labs do as well. Almost all University-based Human Genetic institutes in Germany stopped education of cytogeneticists. Thus, nowadays German private labs have to educate new coworkers how to do banding cytogenetics, as these are not available from universities; such education cannot be considered the same as it was before at universities. Even worse – we know from countries like Australia, USA or Canada, that Human Genetics was absorbed by Pathology, there. Thus, the fact that new tumorgenetic labs have been and are repeatedly opened by Pathologists in Germany during the last years, and that they are looking for cytogeneticist, should alarm national societies and lead them to re-strengthen this field.

Maybe more 'chromosome people' reading this have the same feeling about the development of our national and international Human Genetic societies, and may write corresponding letters of concern to them.