Patients and Family Members

About EnGagE

Information for Patients and Families

EnGagE is an international knowledge-sharing and expertise-enhancing network encompassing research teams and patients representatives from Europe and beyond to facilitate research on Psychiatric Genetic Testing and Psychiatric Genetic Counselling.

EnGagE is an international knowledge-sharing and expertise-enhancing network encompassing research teams and patients representatives from Europe and beyond to facilitate research on Psychiatric Genetic Testing and Psychiatric Genetic Counselling.

The publication of the major advances in psychiatric genetics have received wide media coverage, and awareness among patients and their family members of the role of genetics in psychiatric disorders is growing. This has led to an increased demand for high-quality information on psychiatric genetics; likely provided in the form of Psychiatric Genetic Counselling. Currently, however, few clinical centres across Europe offer Psychiatric Genetic Counselling, and genetic counsellors and psychiatrists report that they feel ill-equipped to educate patients and their family members on the genetics of psychiatric disorders.

Furthermore, as Psychiatric Genetic Counselling and Psychiatric Genetic Testing are in their infancy, no evidence-based guidelines or practice recommendations exist.

EnGagE arises in this context to address the increasing demand for Psychiatric Genetic Counselling and the growing interest in Psychiatric Genetic Testing by developing a common framework to facilitate the future implementation of both disciplines into clinical care.

Our main goals are to develop standardised guidelines, practice recommendations and research protocols; share scientific knowledge and data and provide standardized training in PsyGC and PsyGT.

We think that the potential value of psychiatric genetics will only be truly realised if data can be translated into meaningful actions for professionals, patients, and the general public. To achieve this, EnGagE will use a variety of communication channels to disseminate key information to both the wider scientific community and the general public. For this reason EnGagE will develop:

  • An information leaflet for laypersons
  • A Question-and-Answer workshop on ethical issues to which the general public will be invited and will be streamed and posted on this website.
  • A press statement for each of our publications
  • Finally, social media (e.g. Facebook, Twitter) will be used to disseminate key information on progress within EnGagE.

Glossary of Terms

The process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates:

  • Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
  • Education about inheritance, testing, management, prevention, resources and research.
  • Counseling to promote informed choices and adaptation to the risk or condition.

A copy number variation (CNV) is when the number of copies of a particular gene varies from one individual to the next. Following the completion of the Human Genome Project, it became apparent that the genome experiences gains and losses of genetic material. The extent to which copy number variation contributes to human disease is not yet known. Common CNVs are thought to have minimal impact on individuals who carry these. Whereas rare CNVs may have a large impact on the risk of developing certain disorders.

Polygenic risk score (PRS) is a measure that gives an individual the genetic risk of developing a particular disorder. However, currently these risk scores do not have highlevels of precision and are therefore of limited clinical utility.

Psychiatric disorder is a behavioral or mental pattern that causes significant distress or impairment of personal functioning. Biological, psychological, and environmental factors all contribute to the development or progression of mental disorders. Most psychiatric disorders are highly heritable; the estimated heritability for bipolar disorder, schizophrenia, and autism higher than that of diseases like breast cancer and Parkinson disease.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. Several methods can be used for genetic testing:

  • Molecular genetic tests (or gene tests) study single genes or short lengths of DNA to identify variations or mutations that lead to a genetic disorder.
  • Chromosomal genetic tests analyze whole chromosomes or long lengths of DNA to see if there are large genetic changes, such as an extra copy of a chromosome, that cause a genetic condition.
  • Biochemical genetic tests study the amount or activity level of proteins; abnormalities in either can indicate changes to the DNA that result in a genetic disorder. 

Carrier screening is a type of genetic testing performed on people who display no symptoms for a genetic disorder but may be at risk for passing it on to their children. A carrier for a genetic disorder has inherited one normal and one abnormal allele for a gene associated with the disorder. A child must inherit two abnormal alleles in order for symptoms to appear. Prospective parents with a family history of a genetic disorders are candidates for carrier screening.

Congenital conditions are those present from birth. Birth defects are described as being congenital. They can be caused by a genetic mutation, an unfavorable environment in the uterus, or a combination of both factors.

Insertion is a type of mutation involving the addition of genetic material. An insertion mutation can be small, involving a single extra DNA base pair, or large, involving a piece of a chromosome.

Deletion is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome.

Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome. Gene and chromosome duplications occur in all organisms. Gene duplication is an important mechanism by which evolution occurs.

Substitution is a type of mutation where one base pair is replaced by a different base pair.

Epigenetics is an emerging field of science that studies heritable changes caused by the activation and deactivation of genes without any change in the underlying DNA sequence of the organism

A first degree relative is a family member who shares about 50 percent of their genes with a particular individual in a family. First degree relatives include parents, offspring, and siblings.

A genome-wide association study (GWAS) is used in genetics research to associate specific genetic variations with particular diseases. The method involves scanning the genomes from many different people and looking for genetic markers that can be used to predict the presence of a disease.

Gene mapping is the process of establishing the locations of genes on the chromosomes. By following inheritance patterns, the relative positions of genes can be determined.

The genome is the entire set of genetic instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes, found in the nucleus, as well as a small chromosome found in the cells’ mitochondria. 

A genetic marker is a DNA sequence with a known physical location on a chromosome. Genetic markers can help link an inherited disease with the responsible gene. DNA segments close to each other on a chromosome tend to be inherited together.

NIPT genetic testing is performed on foetal DNA that is found in maternal blood. Results of NIPT testing can inform on the whether a foetus is a carrier of specific genetic syndromes

A karyotype is an individual’s collection of chromosomes. The term also refers to a laboratory technique that produces an image of an individual’s chromosomes. The karyotype is used to look for abnormal numbers or structures of chromosomes.

Newborn screening is testing performed on newborn babies to detect a wide variety of disorders. Typically, testing is performed on a blood sample obtained from a heel prick when the baby is two or three days old.

A phenotype is an individual’s observable traits, such as height, eye color, and blood type. The genetic contribution to the phenotype is called the genotype

A genotype is an individual’s collection of genes. The term also can refer to the two alleles inherited for a particular gene



The International Society of Psychiatric Genetics (ISPG)

European Organisation for Rare disorders

The European Genetic Alliances’ Network

The portal for rare diseases and orphan drugs

The European Society for human Genetics