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A new decade of community genetics: old and new challenges

“Community Genetics“ is a term coined by Coldwell et al. in 1975 to describe the need and value of a genetic service to the community (Coldwell et al. 1975; Ten Kate 2012). It was further developed as a distinct concept in medicine in the early 1980s (Modell and Kuliev 1998) and gained momentum with new possibilities for carrier screening in the 1990s (Modell 1990). The World Health Organization Regional Office for Europe described Community Genetics services in Europe in 1991, including primary prevention, prenatal diagnosis and neonatal screening (Modell et al. 1991). Community Genetics was then seen by some authors as a public health activity (Modell and Kuliev 1998). At the same time experts with a background in clinical genetics developed an interest for the field and a journal Community Genetics was launched in 1998, with the clinical geneticist Leo ten Kate as its founding editor. Twelve years later, this journal was discontinued. An understanding had emerged of “community genetics” as an activity distinct from genetics in public health (Schmidtke and ten Kate 2010), although it was conceded that community genetics and public health genetics had much in common. The difference was found in their aims: whereas the latter aims to improve the population’s health, the former focuses on the well-being of the individual. A consensus definition of community genetics was reached by an informal group of scientists (Ten Kate et al. 2010); they emphasized the benefit of genetic service provision to the individuals in a community as the primary goal, including their reproductive autonomy, but recognized that the area of reproductive medicine bears potential for conflict (Schmidtke and ten Kate 2010). This conflict has continued unabated (Schmidtke and Cornel 2019), and the Journal of Community Genetics is committed to open discussion of such areas of ethical dissent.

Community Genetics claims a multi-, inter- and transdisciplinary scope, and in the 10 years of its existence this journal has redeemed this claim. It has published a total of 435 original articles, short communications, country reports, reviews, editorials and letters to the editor covering all subareas of the field including genetic screening, genetic literacy and education, as well as ethical, legal, social and economic issues.

The journal has published a series of eight distinguished special issues:

Genetics and Democracy, April 2012, guest edited by Maria Hedlund, Niclas Hagen and Ulf Kristoffersson, https://link.springer.com/journal/12687/3/2

Genetic Aspects of Preconception Consultation in Primary Care, July 2012, guest edited by Jon D Emery, Anne L Dunlop and Leo P ten Kate, https://link.springer.com/journal/12687/3/3

“CAPABILITY” and “Genetic testing in emerging economies” (GenTEE), July 2013, guest edited by Irmgard Nippert, https://link.springer.com/journal/12687/4/3

Predictive Genetic Testing, Risk Communication and Risk Perception, January 2014, guest edited by Eva Fisher and Holger Tönnies, https://link.springer.com/journal/12687/5/1

Genetics and Ethics in Latin America, July 2015, guest edited by Jorge Sequiros, Sahra Gibbon and Angus Clarke, https://link.springer.com/journal/12687/6/3

Inclusion of Diverse Populations in Genomics Research and Health Services: A Scientific and Health Equity Imperative, October 2017, guest edited by Martina C Cornel and Vence L. Bonham, https://link.springer.com/journal/12687/8/4

Citizen's Health through public-private Initiatives: Public health, Market and Ethical perspectives, April 2018, guest edited by Pascal Borry and Heike Felzmann, https://link.springer.com/journal/12687/9/2

Epidemiological Methods in Community Genetics, October 2018, guest edited by Bernadette Modell, Matthew W Darlison and Sowmiya Moorthie, https://link.springer.com/journal/12687/9/4

From its inception in 2010, the Journal of Community Genetics aimed to be a truly international journal, attracting authors and readers from all parts of the world. As of now, 1495 authors from 69 countries worldwide have contributed.

The journal has fulfilled its self-imposed task of placing its emphasis on genetic services in middle- and low-income countries and on genetics in disadvantaged and underserved populations. After its launch the Journal of Community Genetics quickly gained an international dimension, not only in terms of authorship but also of readership (Figs. 1 and 2).

Fig. 1
figure1

Authorship of the Journal of Community Genetics by Country

Fig. 2
figure2

Readership of the Journal of Community Genetics by Geography. The graph shows the geographic distribution of full text downloads in 2018 for all articles published in the journal from 2010 to 2018

With the completion of this decade, Jörg Schmidtke, founding editor of the journal, is stepping down as Editor-in-Chief, to be succeeded by Martina Cornel. Little will change in the basic concepts and scope of the journal, but new issues will certainly arise in its next 10 years. With sequencing technologies becoming cheaper, the ubiquitous presence of commercial offers of DNA testing, the major discussions around the stratification of risk profiles according to polygenic risk scores, the competition of social media reporting on genetics and personalized media with traditional scientific journals and medicine, and the large number of potential treatments available or just around the corner, the question of how to optimize the value of community genetics to the entire community is more relevant than ever.

References

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  2. Modell B (1990) Cystic fibrosis carrier screening and community genetics. J Med Genet 27:475–479

  3. Modell B, Kuliev A (1998) The history of community genetics: the contribution of the haemoglobin disorders. Community Genet 1:3–11

  4. Modell B, Kuliev AM, Wagner M (1991) Community genetics services in Europe: report on a survey. WHO regional publications. European series; no 38. Copenhagen, Denmark

  5. Schmidtke J, Cornel MC (2019) Contentious ethical issues in community genetics: let’s talk about them (Editorial). J Community Genet. https://doi.org/10.1007/s12687-019-00444-5

  6. Schmidtke J, ten Kate LP (2010) The journal of community genetics. J Community Genet 1:1–2

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Correspondence to Martina C. Cornel.

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Thank you, Professor Jörg Schmidtke, and Welcome, Professor Martina Cornel!

I remember very well when Jörg Schmidtke and Leo ten Kate approached me in late 2007 with the idea of founding a journal that would be dedicated to community and health genetics. The idea immediately caught my interest and that of our Springer in-house biomedical editorial team. So together we started shaping the profile of the future journal. We were very fortunate to gather an excellent team of Associate Editors who agreed to support the launch. A tremendous amount of work, diligence, persuasive power and also vision is required to found a new journal and to attract papers that are of interest and relevance to the scientific community. The editorial team under Jörg’s guidance accomplished all this with excellence and gave the journal a wonderful start. As mentioned above the editors were able to publish an impressive series of special issues on highly relevant topics

Jörg’s vision and mission was to create an interdisciplinary journal with a focus on genetic services in middle- and low-income countries and on genetics in disadvantaged and underserved populations. The Journal of Community Genetics stands out in being the only venue to publish this kind of research, and Springer Nature is proud to publish a journal that assembles papers relevant for often underserved communities.

On behalf of Springer Nature, I would like to thank Jörg Schmidtke for 10 years of wonderful and fruitful cooperation. And I am very grateful that Jörg has agreed to stay on the editorial board as the Chair of the Advisory Board. So this is a good-bye to Jörg as Editor-in-Chief, but luckily not a complete farewell.

I would like to take the opportunity to warmly welcome Professor Martina Cornel as the new Editor-in-Chief. Martina has been with the journal as an Associate Editor from its launch. She has strongly supported the journal in its mission to grow and to attract high-quality content and was a guest editor of the 2017 special issue on “Inclusion of Diverse Populations in Genomics Research and Health Services: A Scientific and Health Equity Imperative”. We at Springer are very honored to work with Martina and the whole editorial team. We look forward to many more years of fruitful cooperation and to seeing the Journal of Community Genetics continue to thrive and prosper.

Andrea Pillmann

Executive Editor, Springer Nature

December 2019

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Schmidtke, J., Cornel, M.C. A new decade of community genetics: old and new challenges. J Community Genet 11, 1–3 (2020) doi:10.1007/s12687-019-00448-1

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