The European Society
of Human Genetics

Public and Professional Policy Committee

The Public and Professional Policy Committee (PPPC)

Members of the PPPC 2018-2019

  3-year term ends Term
Christophe Cordier (Lausanne, Switzerland) 2020 1st
Angus Clarke (Cardiff, United Kingdom) 2019 1st
Martina Cornel (Amsterdam, The Netherlands) - Co-Chair     2020 5th
Guido de Wert (Maastricht, The Netherlands) 2021 2nd
Florence Fellmann (Dudelange, Luxembourg) 2021 3rd
Francesca Forzano (London, UK) - Chair 2020 4th
Sabine Hentze (Heidelberg, DE) 2021 1st
Heidi Howard (Uppsala, Sweden) 2021 3rd
Hulya Kayserili (Istanbul, Turkey) 2020 3rd
Bela Melegh (Pecs, Hungary) 2021 2nd
Alvaro Mendes (Porto, Portugal) 2021 2nd
Markus Perola (Helsinki, Finland) 2019 1st
Dragica Radojkovic (Belgrade, Serbia) 2021 3rd
Emmanuelle Rial-Sebbag (Toulouse, France) 20202nd
Vigdis Stefánsdottir (Reykjavik, Iceland) 2020 1st
Carla van El (Amsterdam, The Netherlands) - Secretary General 2019 1st

 

What do we do?

The Public and Professional Policy Committee (PPPC) is an interdisciplinary Committee of  the ESHG constituted at its 1997 annual meeting. At the time it became increasingly clear that fast technological developments called for thorough discussions and clear statements regarding their professional and societal ramifications.

It is the mission of PPPC to contribute to the responsible translation of  advancements in  human genetics, and therefore its members aim

  • to identify and discuss the ethical, social and policy issues related to human genetics and its application in research, clinical practice and laboratory genetic services.
  • to be informed of various research projects, conferences and events, as well as policy initiatives and actions relating to those issues
  • to inform and stimulate the discussion around these issues at meetings
  • to address these issues and provide guidance through background documents, policy statements, recommendations or other publications
  • to participate in the public and professional debate around these issues
  • to inform, interact with and provide advice to national and international policy makers

Over the years numerous documents have been produced, often in collaboration with external experts. In some cases, draft documents  are distributed to the ESHG membership for consultation. In all cases documents are to be endorsed by the ESHG Board. Recent publications are listed below.

Currently, the PPPC is working on statements regarding gene-editing and post mortem genetics. The Committee collaborates with a range of other societies and organisations such as ASHG-Social Issues Committee, EMPAG and ESHRE

The PPPC has vacancies every year for one or two new members who may serve two to a maximum of three three-year terms. In addition, external experts can request or can be invited to work on specific topics and become a PPPC collaborator. For the composition of the group expertise in a range of subjects and professional backgrounds is taken into account; members should have experience with or proven interest in policy issues regarding genetics and be motivated to work on specific topics, most notably by preparing documents. Ideally members come from different regions in Europe.

The PPPC meets twice a year. The ESHG President, Vice-President and President-Elect are ex-officio members.  Since 2012, the PPPC has a liaison member to the SPC (in 2015-2016 Francesca Forzano). 

ESHG members interested in becoming a PPPC member  are requested to send their CV and a letter of interest stating their expertise and motivation for joining to the Chair, Martina Cornel  mc.cornel(at)vumc.nl. ESHG members having suggestions for new topics to work on, or interested in working  on a specific topic as a collaborator are also encouraged to contact PPPC via the same email address. 

Recommendations

Gene editing

Background document: 
Responsible innovation in human germline gene editing: Background document to the recommendations of ESHG and ESHRE.De WertG, Heindryckx B, Pennings G, Clarke A, Eichenlaub-Ritter U, van El CG, Forzano F, Goddijn M, Howard HC, Radojkovic D, Rial-Sebbag E, Dondorp W, Tarlatzis BC, Cornel MC; European Society of Human Genetics and the European Society of Human Reproduction and Embryology Eur J Hum Genet. 2018 Jan 12. doi: 10.1038/s41431-017-0077-z. [Epub ahead of print]

Recommendations:
Human germline gene editing: Recommendations of ESHG and ESHRE.De WertG, Pennings G, Clarke A, Eichenlaub-Ritter U, van El CG, Forzano F, Goddijn M, Heindryckx B, Howard HC, Radojkovic D, Rial-Sebbag E, Tarlatzis BC, Cornel MC; European Society of Human Genetics and the European Society of Human Reproduction and Embryology.  Eur J Hum Genet. 2018 Jan 12. doi: 10.1038/s41431-017-0076-0. [Epub ahead of print]

Points and questions to consider:
One small edit for humans, one giant edit for humankind? Points and questions to consider for a responsible way forward for gene editing in humans.Howard HC, van El CG, Forzano F, Radojkovic D, Rial-Sebbag E, de WertG, Borry P, Cornel MC; Public and Professional Policy Committee of the European Society of Human Genetics Eur J Hum Genet. 2018 Jan;26(1):1-11. doi: 10.1038/s41431-017-0024-z. Epub 2017 Nov 30.

NIPT

Background document including Recommendations:
Non-invasiveprenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screeningDondorp W, De Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, et al, on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG). Eur J Hum Genet 2015;23:1438-1450.  

Summary and Recommendations:
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.Dondorp W, De Wert G, Bombard Y, Bianchi DW, Bergmann C, Borry P, Chitty LS, Fellmann F, Forzano F, Hall A, Henneman L, Howard HC, Lucassen A, Ormond K, et al, on behalf of the European Society of Human Genetics (ESHG) and the American Society of Human Genetics (ASHG).  Eur J Hum Genet advance online publication 1 April 2015; doi: 10.1038/ejhg.2015.56 

Expanded carrier screening

Background document including Recommendations
Responsible implementation of expanded carrier screeningHenneman L, Borry P, Chokoshvili D, Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B, on behalf of the European Society of Human Genetics. Eur J Hum Genet 2016;24:e1-e12. 

Summary and Recommendations:
Responsible implementation of expanded carrier screening: Summary and recommendations of the European Society of Human Genetics.Henneman L,Borry P, Chokoshvili, D Cornel MC, van El CG, Forzano F, Hall A, Howard HC, Janssens S, Kayserili H, Lakeman P, Lucassen A, Metcalfe SA, Vidmar L, de Wert G, Dondorp WJ, Peterlin B, on behalf of the European Society of Human Genetics. Eur J Hum Genet 2016; 24: 781–783[ECv1].

Whole-genome sequencing

Recommendations:
Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics. https://www.ncbi.nlm.nih.gov/pubmed/23676617van El CG, Cornel MC, Borry P, Hastings RJ, Fellmann F, Hodgson SV, Howard HC, Cambon-Thomsen A, Knoppers BM, Meijers-Heijboer H, Scheffer H, Tranebjaerg L, Dondorp W, de Wert GM; ESHG Public and Professional Policy Committee.

Eur J Hum Genet. 2013 Jun;21(6):580-4. doi: 10.1038/ejhg.2013.46. No abstract available. 

Whole-genome sequencing/Newborn screening

Statement:
Whole-genome sequencing in newbornscreening? A statementon the continuedimportanceof targetedapproachesin newbornscreeningprogrammes.Howard HC, Knoppers BM, Cornel MC, Wright Clayton E, Sénécal K, Borry P; European Society of Human Genetics; P3G International Paediatric Platform; Human Genome Organisation; and the PHG Foundation.

Eur J Hum Genet. 2015 Dec;23(12):1593-600. doi: 10.1038/ejhg.2014.289. Epub 2015 Jan 28.

Common disorders

Background document:
Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders.Becker F, van El CG, Ibarreta D, Zika E, Hogarth S, Borry P, Cambon-Thomsen A, Cassiman JJ, Evers-Kiebooms G, Hodgson S, Janssens AC, Kaariainen H, Krawczak M, Kristoffersson U, Lubinski J, Patch C, Penchaszadeh VB, Read A, Rogowski W, Sequeiros J, Tranebjaerg L, van Langen IM, Wallace H, Zimmern R, Schmidtke J, Cornel MC
Eur J Hum Genet. 2011 Apr;19 Suppl 1:S6-44. doi: 10.1038/ejhg.2010.249.  

Recommendations

Genetic testing and common disorders in a public health framework.

van El CG, Cornel MC; ESHG Public and Professional Policy Committee.

Eur J Hum Genet. 2011 Apr;19(4):377-81. doi: 10.1038/ejhg.2010.176. 

Minors

Recommendations:
Genetic testingin asymptomaticminors: Recommendationsof the EuropeanSocietyof Human Genetics.

Eur J Hum Genet. 2009 Jun;17(6):720-1. doi: 10.1038/ejhg.2009.26. Epub 2009 Mar 11. No abstract available. 

Background document:
Genetic testingin asymptomaticminors: background considerations towards ESHG Recommendations.Borry P, Evers-Kiebooms G, Cornel MC, Clarke A, Dierickx K; Public and Professional Policy Committee (PPPC) of the EuropeanSocietyof Human Genetics(ESHG).

Eur J Hum Genet. 2009 Jun;17(6):711-9. doi: 10.1038/ejhg.2009.25. Epub 2009 Mar 11.

Genetic services

Review:
Provisionof genetic servicesin Europe:currentpracticesand issues.Godard B, Kääriäinen H, Kristoffersson U, Tranebjaerg L, Coviello D, Aymé S.  Eur J Hum Genet. 2003 Dec;11 Suppl 2:S13-48. Review.

Recommendations:
Provisionof genetic servicesin Europe:currentpracticesand issues.

Eur J Hum Genet. 2003 Dec;11 Suppl 2:S2-4.

Provisionof genetic servicesin Europe: currentpracticesand issues.

Eur J Hum Genet. 2003 Dec;11(12):900-2. 

Patents

Patentingand licensingin genetictesting: recommendationsof the EuropeanSocietyof HumanGenetics.Aymé S, Matthijs G, Soini S; ESHG Working Party on Patentingand Licensing.

Eur J Hum Genet. 2008 May;16 Suppl 1:S10-9. doi: 10.1038/ejhg.2008.37. 

Reproductive technologies

Current issues in medically assistedreproductionand geneticsin Europe: research, clinical practice, ethics, legal issues and policy: European Society of Human Geneticsand European Society of Human Reproductionand Embryology.Joyce C Harper, Joep Geraedts, Pascal Borry, Martina C Cornel, Wybo Dondorp, Luca Gianaroli, Gary Harton, Tanya Milachich, Helena Kääriäinen, Inge Liebaers, Michael Morris, Jorge Sequeiros, Karen Sermon, Françoise Shenfield, Heather Skirton, Sirpa Soini, Claudia Spits, Anna Veiga, Joris Robert Vermeesch, Stéphane Viville, Guido de Wert, Milan Macek, Jr. Eur J Hum Genet. 2013 Nov; 21(Suppl 2): S1–S21. Published online 2013 Nov 14. doi: 10.1038/ejhg.2013.219

The interfacebetween assistedreproductivetechnologiesand genetics: technical, social, ethicaland legalissues.Soini S, Ibarreta D, Anastasiadou V, Aymé S, Braga S, Cornel M, Coviello DA, Evers-Kiebooms G, Geraedts J, Gianaroli L, Harper J, Kosztolanyi G, Lundin K, Rodrigues-Cerezo E, Sermon K, Sequeiros J, Tranebjaerg L, Kääriäinen H; ESHG; ESHRE. Eur J Hum Genet. 2006 May;14(5):588-645. 

The need for interaction between assisted reproduction technology and genetics
Eur J Hum Genet. 2006  volume 14, pages 509–511 doi:10.1038/sj.ejhg.5201600

Pharmacogenetics (draft)

Polymorphic sequence variants in medicine: Technical, social, legal and ethical issues Pharmacogenetics as an example (Draft Background Document) - More

Genetic services

Provision of genetic services in Europe: current practices and issues - More

Population genetic screening

Population genetic screening programmes: technical, social and ethical issues - More

Data storage and biobanking

Data storage and DNA banking for biomedical research: technical, social and ethical issues - More

Insurance 

Genetic information and testing in insurance and employment: technical, social and ethical issues - More

Other Publications

Article: Where are you going, where have you been: a recent history of the direct-to-consumer genetic testing market - More
Pascal Borry & Martina C. Cornel & Heidi C. Howard

ESHG Responses

PPPC-EHSG response to the Human Genetics Commission consulation on A Common Framework of Principles for direct-to-consumer genetic testing services - More

ESHG response to the European Parliament Report on the ethical, legal, economic and social implications of human genetics - More

Letter of the ESHG PPPC to members of the European Parliament concerning  "A European action in the field of rare diseases" (vote on 23 April 2009) - More

ESHG reponse to the EU consultation on "Rare diseases: Europe's challenge" - More

Development Process

The papers produced by the PPPC were submitted for comments, then endorsement, to the members of the International  Federation of Human Genetics Societies.

Some of the documents are available as pdf file (for which you will require a copy of Acrobat Reader, available free)