Where Ideas grow
Milena Paneque
Project Leader
M. Paneque graduated in Psychology from Universidad Central Martha Abreu (Cuba), in 1998. She completed a Master Degree in Genetic Counselling, at Instituto Superior de Ciencias Médicas La Habana (Cuba), in 2002. In 2008, she finished her PhD degree in Biomedical Sciences, at Instituto de Ciencias Biomédicas (ICBAS), (Univ. Porto), in the psychosocial genetics aspects of presymptomatic testing for late-onset neurodegenerative diseases. Paneque was integrated as clinical psychologist, genetic counsellor and researcher at CGPP, IBMC, in 2004, after having led a Preventive Genetics Department at the research and rehabilitation centre for hereditary ataxia (CIRAH) in Holguín, Cuba. She developed a postdoc, with a FCT scholarship, at IBMC, with supervision of Jorge Sequeiros (IBMC) and Prof. Heater Skirton (Plymouth, UK) one of leading specialists in genetic counselling, on the innovative and challenging topic of how to assess quality of genetic counselling, particularly in the field of late-onset disorders. She also co-directs the Master course on Genetic Counselling at ICBAS, the first in the country (and one of the few in Europe), which is one of only 5 such courses accredited by the European Board of Medical Genetics (EBMG); she also supervises the students clinical rotations and 2nd year research projects. Paneque has published 52 full papers (18 as first author and 14 as a senior corresponding author) in international peer-review journals. Her research, in the interface of the social sciences and medical genetics, has been focused on two major themes: (1) psychosocial aspects of genetic diseases; and (2) quality of genetic counselling. In both cases, this has been pioneer, innovative and competitive work, both at the national and the international level. She was the first professional in Genetic Counselling in Portugal and has been actively involved on the development of the profession and leading research on the field. Established credentials of Dr. Paneque allowed her to integrate and develop the European Network of Genetic Counsellors and to be chosen for representing the country at the EBMG, of which she was nominated co-Chair and where she leads the section of Genetic Counsellors. She also leads the National Association of Genetic Counsellors and is a member of the Transnational Alliance for Genetic Counselling. She regularly reviews papers for peer-reviewed scientific journals of her field, collaborates with diffusion of science and genetics in society and among high-school students, has completed the supervision of 8 Master students, and is currently supervising 4 PhD student. At a national level, hers is a pioneer work, which led to the development of genetic counselling as a professional area. This has been recognized as her affiliation in the European Genetic Counselling Network and, most importantly, the European Board of Medical Genetics (at the European Society of Human Genetics) as it´s current Chair.

Selected Publications

Paneque M., Serra-Juhé C., Pestoff R., Cordier C., Silva J., Moldovan R., Ingvoldstad C.,
Complementarity between medical geneticists and genetic counsellors: Its added value in genetic services in Europe. European Journal of Human Genetics25(8):918-923, 2017. [Journal: Article] [CI: 9] [IF: 3,6]
DOI: 10.1038/ejhg.2017.76 SCOPUS: 85019732495.


McAllister M., Moldovan R., Paneque M., Skirton H.,
The need to develop an evidence base for genetic counselling in Europe. European Journal of Human Genetics24(4):504-505, 2016. [Journal: Letter] [CI: 9] [IF: 4,3]
DOI: 10.1038/ejhg.2015.134 SCOPUS: 84960439444.


Paneque M., Turchetti D., Jackson L., Lunt P., Houwink E., Skirton H.,
A systematic review of interventions to provide genetics education for primary care. BMC Family Practice17(1):, 2016. [Journal: Review] [CI: 24] [IF: 1,8]
DOI: 10.1186/s12875-016-0483-2 SCOPUS: 84978923016.


Paneque M., Moldovan R., Cordier C., Serra-Juhé C., Feroce I., Lambert D., Bjørnevoll I., Skirton H.,
Development of a registration system for genetic counsellors and nurses in health-care services in Europe. European Journal of Human Genetics24(3):312-314, 2016. [Journal: Article] [CI: 19] [IF: 4,3]
DOI: 10.1038/ejhg.2015.234 SCOPUS: 84958117426.


Paneque M., Sequeiros J., Skirton H.,
Quality issues concerning genetic counselling for presymptomatic testing: A European Delphi study. European Journal of Human Genetics23(11):1468-1472, 2015. [Journal: Article] [CI: 6] [IF: 4,6]
DOI: 10.1038/ejhg.2015.23 SCOPUS: 84944353845.


Paneque M., Mendes Á., Saraiva J., Sequeiros J.,
Genetic Counseling in Portugal: Education, Practice and a Developing Profession. Journal of Genetic Counseling24(4):548-552, 2015. [Journal: Article] [CI: 8] [IF: 2]
DOI: 10.1007/s10897-015-9827-7 SCOPUS: 84938200744.


Pestoff R., Moldovan R., Cordier C., Serra-Juhé C., Paneque M., Ingvoldstad C.M.,
How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe. Clinical Genetics93(4):891-898, 2018. [Journal: Article] [CI: 1] [IF: 4,1]
DOI: 10.1111/cge.13197 SCOPUS: 85042386019.


Jackson L., O’Connor A., Paneque M., Curtisova V., Lunt P.W., Pourova R.K., Macek M., Stefansdottir V., Turchetti D., Campos M., Henneman L., Godino L., Skirton H., Cornel M.C.,
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages. Genetics in Medicine21(3):718-726, 2019. [Journal: Article] [CI: 4] [IF: 8,9]
DOI: 10.1038/s41436-018-0132-3 SCOPUS: 85050673759.


Paneque M., Costa C., Lemos C., Alves-Ferreira M., Sequeiros J., Lemos M.S.,
Proposal of a portuguese tool for quality assessment of genetic counselling: A new tool for healthcare professionals. Acta Medica Portuguesa31(6):321-328, 2018. [Journal: Article] [CI: 2] [IF: ,6]
DOI: 10.20344/amp.9997 SCOPUS: 85049525440.


Paneque M., Félix J., Mendes Á., Lemos C., Ledo S., Silva J., Sequeiros J.,
Twenty years of a pre-symptomatic testing protocol for late-onset neurological diseases in Portugal. Acta Medica Portuguesa32(4):295-304, 2019. [Journal: Article] [CI: 4] [IF: ,6]
DOI: 10.20344/amp.10526 SCOPUS: 85065766376.


Abacan M.A., Alsubaie L., Barlow-Stewart K., Caanen B., Cordier C., Courtney E., Davoine E., Edwards J., Elackatt N.J., Gardiner K., Guan Y., Huang L.H., Malmgren C.I., Kejriwal S., Kim H.J., Lambert D., Lantigua-Cruz P.A., Lee J.M.H., Lodahl M., Lunde Å., Macaulay S., Macciocca I., Margarit S., Middleton A., Moldovan R., Ngeow J., Obregon-Tito A.J., Ormond K.E., Paneque M., Powell K., Sanghavi K., Scotcher D., Scott J., Juhé C.S., Shkedi-Rafid S., Wessels T.M., Yoon S.Y., Wicklund C.,
The Global State of the Genetic Counseling Profession. European Journal of Human Genetics27(2):183-197, 2019. [Journal: Review] [CI: 28] [IF: 3,7]
DOI: 10.1038/s41431-018-0252-x SCOPUS: 85054494212.