[Genetic screening of adopted individuals].

Information regarding hereditary disease predisposition is generally inaccessible for adoptees. The lack of family history restricts access to various surveillance programmes and the overall health of the adoptee. Genetic screening of asymptomatic adoptees could be a compensational tool. However, variant classification is difficult, even more so in certain ethnic groups and in cases where there is no knowledge of family history, as summarised in this review. The usefulness of genetic screening of asymptomatic adoptees is still unknown and requires further research for clarification.

[Genetic screening of prospective parents].

Risk of genetic diseases with autosomal recessive or X-linked inheritance can be unknown to prospective parents until an affected child is born. New technology has enabled carrier screening for hundreds of genetic diseases (expanded carrier screening, ECS). I Denmark, each year estimated 100-180 children are born affected with a serious condition which could have been detected with ECS of the parents. This review describes the considerations and perspectives of a systematic genetic screening programme for prospective parents in the Danish healthcare system.

[Genomic medicine for preconception, prenatal and postnatal diagnostics].

New technology for genetic testing results in more precise diagnostics and individualised treatment but also identification of variants in genes with unknown association to disease or variants with uncertain significance. Genetic knowledge may involve preconception genetic testing to reduce the risk of passing serious gene variants on to the foetus. Prenatal diagnostics and whole genome sequencing in childhood have also benefitted from the new technology, but ethical dilemmas such as diagnosing a child with a late-onset disorder and potentially harm the child's right to an open future arise.

[Advantages and disadvantages of direct-to-consumer genetic tests].

Direct-to-consumer genetic tests are sold over the internet to consumers all over the world - including Denmark. No regulation of these tests has been introduced neither in Denmark nor in Europe, even though they have been on the market since 2007. Such tests have several advantages, but indeed also a long list of potential disadvantages, which are most often ignored, and among these is insufficient training of general practitioners in performing the necessary counselling but also the risk of increased expenses to unnecessary follow-up consultations.

[Cancer genetics. A review of oncological molecular biology seen in relation to the human genome]. / Cancergenetik. En oversigt over onkologisk molekylaerbiologi set i relation til det humane genom.

Genetic changes are associated with the neoplastic process, when a normal cell is transformed into a cancer cell. Cell growth and differentiation are regulated by complicated interactions between growth promoting and inhibiting signals. Oncogenes are examples of growth promoting genes and tumour suppressor genes (gatekeepers and caretakers) are examples of growth inhibiting genes. Binding of a growth factor to its membrane receptor induces a cascade of intracellular signals resulting in proliferation. Regulation of proliferation is tightly correlated to the regulation of cell cycle, and many of the growth regulating genes also regulate cell cycle, and vice versa. The malignant transformation also includes evasion of programmed cell death (apoptosis), limitless replicative potential (evasion of senescence), sustained angiogenesis, and tissue invasion and metastasis. A rough sketch of the human genome has recently been published, and it brings hope of new potentials in cancer diagnostics, treatment, and choice of treatment, but also in revealing the molecular mechanisms behind cancer predisposition and environmental interactions. It is to be hoped that this will result in possibilities of cancer prophylaxis.

[The genes disposing to malignant melanoma--a systematic review]. / Genetiske fund giver nye muligheder for udredning af arveligt malignt melanom.

Denmark is a high-risk country for malignant melanoma (MM).The incidence of MM has increased faster than the ones of any other cancer during the last ten years. 5-10% of the patients with MM report a family history of MM, and this is most likely caused by a combination of genetic and environmental factors. The genes disposing to MM are reviewed in this article and the challenges and ethical considerations concerning genetic counselling of families at high risk of MM are discussed.

[Hereditary cancer syndromes]. / Arvelige cancersyndromer.

Hereditary cancer syndromes are characterized by increased risk of cancers but other symptoms can also be seen. Germline mutations usually cause a high cancer risk but more moderate risk genes are being identified. A negative mutation screening cannot exclude a hereditary cancer syndrome, since it is not possible to analyse all genes. Genetic diagnostics are now part of clinical management and new technology such as next generation sequencing and high-throughput screening are being implemented in clinical settings. This will also impose new challenges such as identification and interpretation of mutations with unknown significance.