Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

  title={Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries},
  author={Thomas Liehr and Isabel Marques Carreira and Zs{\'o}fia Balogh and Elena Dominguez Garrido and Irmgard Verdorfer and Domenico A Coviello and L. Florentin and Hans Scheffer and Martina Rin{\vc}i{\'c} and Heather Williams},
  journal={European Journal of Human Genetics},
  pages={1168 - 1174}
Specialists of human genetic diagnostics can be divided into four groups: Medical Geneticists (MDG), Genetic Nurses and/or Counsellors (GN/GC), Clinical Laboratory Geneticists (CLG) and Laboratory Genetics Technicians (LGT). While the first two groups are in direct patient contact, the work of the latter two, of equal importance for patient care, are often hidden as they work behind the scenes. Herein the first study on the rights and duties of CLGs is presented. We present the results of a… 

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems: results of a survey in over 50 countries

This initial survey has an important place in highlighting the value of the role of clinical scientists, both as part of diagnostic laboratory teams, and as members of a patient’s team of healthcare providers, but the methodology of the survey did not formally contact institutions which provide training and accreditation for clinical scientists in relevant countries, resulting in survey results where the data misrepresent the reality.

Chromosomes in the genomic age. Preserving cytogenomic competence of diagnostic genome laboratories.

Evidence from recent EQAs that the competence in recognizing and interpreting cytogenetic aberrations is variable and could impact patient management is provided, and several trends that could affect cytogenomic competence are identified.

Non-Invasive Prenatal Testing in Germany

Main conclusions drawn are that appropriate training and the continuing education of the physicians providing NIPT-related counseling are needed, as well as the provision of balanced and comprehensive information for the pregnant woman or the couple that is imperative.

The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

There is currently a shortage of genetics providers and that there is a lack of consensus about the appropriate boundaries between the scopes of practice for genetics and nongenetics providers, and strategies that may be used to increase productivity and efficiency are pointed to.

Next-Generation Sequencing in Newborn Screening: A Review of Current State

An overview of the current state of next-generation sequencing regarding newborn screening is provided including current recommendations and potential challenges for the use of such technologies in newborn screening.

Correction: The composition and capacity of the clinical genetics workforce in high-income countries: a scoping review

An amendment to this paper has been published and can be accessed via a link at the top of the paper.



European registration process for Clinical Laboratory Geneticists in genetic healthcare

Besides MDs and genetic counselors/nurses an EU-wide recognition system for Clinical Laboratory Geneticist has been established, which strengthens the status of specialists working in human genetic diagnostics in Europe and worldwide.

Complementarity between medical geneticists and genetic counsellors: its added value in genetic services in Europe

Although the added value of genetic counsellors was manifested, professional recognition of geneticCounsellors across Europe is still needed in order to support the quality of patients care and safety of practice.

Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

An Expert Group working under the auspices of the EuroGentest project and European Society of Human Genetics Education Committee agreed that a pragmatic solution to the need to establish common standards for education and practice in genetic health care was to agree a set of core competences that could apply across Europe.


Being in the field of human genetic research and diagnostics since about 2 decades, during the last 10 years the author of this editorial was involved in numerous national and international education programs for young colleagues and observed, that some important aspects during education of future-CLGs definitely need more and special attention.

How practical experiences, educational routes and multidisciplinary teams influence genetic counselors' clinical practice in Europe

The main objective of this study was to explore the complementariness between genetic counselors and medical geneticists and therefore looked at the most relevant tasks of genetic counselors, according to genetic counselors themselves and according to the medical geneticist they work with.

Personalized medicine in Europe: not yet personal enough?

The published literature on personalized medicine is predominantly focused on patient stratification according to individual biological information, and incorporation of environmental factors and patients’ preferences in decision making is also needed.

EuroGentest patient information leaflets: a free resource available in over 20 languages

The EuroGentest project, an EU-funded Network of Excellence, has developed a series of patient information leaflets for patients and families related to genetics and genetic testing, translated into numerous languages spoken across Europe, including ethnic minority languages.

Genetic counseling in primary care

In this article, Ms Facher and Dr Robin answer specific questions that the primary care physician is likely to have or to be asked about the evolving science of genetic testing.

[Basic principles of genetic counseling].

  • G. Wolff
  • Medicine
    Diskussionsforum medizinische Ethik
  • 1992
The paper provides a compilation and short argumentation of rules in genetic counseling and diagnosis that should establish a certain qualitative standard and can serve as a foundation for future discussion.

Noninvasive Prenatal Testing - When Is It Advantageous to Apply

NIPT is a fascinating possibility to gain information on unborn life from minimal amounts of DNA, however, it remains a pure risk estimation test directed towards the detection of specific chromosomal abnormalities from peripheral blood of the pregnant woman.