Quality and reliability of Negen tests
Negen's genetic experts are very well connected and involved in major joint research projects in their respective fields. Their knowledge of the genetics of national diseases is constantly being advanced at the forefront of international development. This expertise is also immediately transferred to Negen's gene test panels, which are updated with new information. Our years of experience in science and research allow for the critical analysis of published and produced genetic information, thus ensuring the reliability of our gene tests.
Negen's medical experts are experienced professionals from a wide range of fields in health care. Their expertise in, for example, disease prevention, treatment protocols, occupational health care and clinical genetics makes the high medical quality and usefulness of our tests possible.
Diseases and genetic variants tested
Negen's guiding principle is to only use tried and true genetic findings. This is why our product range does not include all the tests used by other operators. A high-quality genetic test can be identified by, among other things, the following principles observed by Negen:
- The genetic variants of multifactorial diseases and traits, such as coronary heart disease, are professionally selected from the highest quality scientific research. Research charts genetic regions associated with a certain disease or trait from the entire breadth of the genome in hundreds or even thousands studied. The test is not based on just a few individual genetic variants.
- Information on lifestyle factors plays a key role in assessing the risks of multifactorial diseases. This makes it possible to provide a highly accurate estimate of the overall risk of contracting a disease.
- Genetic variants affecting specific diseases, such as risk variants for a predisposition to blood clotting, have been selected for the tests based on sound scientific and clinical proof. The same genetic variants are also tested in public health care.
- The test result and conclusions based on it are explained clearly and concisely in a result report. The results also state that gene tests do not always rule out the possibility of disease.
- Negen respects the customer's right to choose whether or not they want to know the test result. The customer chooses the diseases and traits on the result report whose results they want to review. Only then will the customer be able to see their personal results. The report also mentions the possibility of diseases and traits affecting close relatives.
- Negen uses a certified laboratory specialising in the DNA isolation and genotyping of genetic material. The calculation methods used in producing test results are appropriate and standardised in the field of genetics.
- On its website, Negen presents information on the methods and principles it uses in its gene tests as well as the importance of the test to health, from both a customer and physician standpoint. This allows the customer to personally weigh the importance of having a gene test based on clearly presented information prior to ordering a test.
- Negen uses good research practices and ethics in its tests. The tests and their results are only intended for the personal use of customers 18 years and older. Tests are only conducted for diseases, against which it is possible to take preventive measures or for which there is a known treatment.
Working in co-operation with the National Institute for Health and Welfare (THL), Negen tests how genetic variants affect multifactorial diseases and traits using unique National FINRISK population data, which contains to the health history of 22,000 Finnish participants, some dating back as much as 23 years. Only when the FINRISK data has been found to have a significant connection between Negen's genetic risk score and a disease or trait, will the risk score in question be included in the Negen test panel.
The Negen test panel contains an exceptionally broad range of genetic variants. However, not all genes or genome sites related to multifactorial diseases or traits are currently known. The Negen test produces an accurate estimate based on the latest scientific knowledge concerning currently known genetic risks. As the volume of research data and key genetic markers increases, we update our analyses to ensure that our customers' reports are also brought up to date with the latest research data.
Micro array technology
The genetic variants in Negen gene tests are genotyped using the Illumina micro array technology, which is well suited to the genetic mapping of the entire genome and used extensively in different research projects. The DNA micro array can be used to capture hundreds of thousands individual oligonucleotides, thus obtaining information on a wide range of pathogenic diseases. Indeed, this is absolutely necessary where multifactorial diseases are concerned, as risk genes are scattered over different parts of the genome. Similar genome-wide data can also be obtained using the DNA sequencing method, in which a genetic structure in a certain region or the entire genome is captured as comprehensively as possible instead of analysing individual DNA sites. However, these methods are more costly when compared to micro array technology.
There is always a risk of error in all data produced with high-quality and even standardised laboratory methods. Negen has analysed the repeatability of micro array results by comparing 116,000 genetic variants and the data on six test subjects. The genotyped data for saliva samples taken from the same people at different times using two different types of micro arrays in different laboratories produced differing genetic data for 0-24 genetic variants. This results in a genotyping error rate of 0-0.02%. When the genetic risk score comprises a total of tens or thousands of genetic variants, a possible, extremely rare genotyping error for an individual genetic variant is practically inconsequential.
Quality control of methods
The genetics laboratory used by Negen is an Illumina Certified Service Provider, i.e. the manufacturer of the micro array used in the gene test has certified that the laboratory produces high-quality genome data with the method in question. There is an extensive and standardised quality control protocol for the automated processing of samples and production of genetic data at each stage of the processing. Quality control monitors, for example, the DNA concentration and purity of samples, the success of genotyping reactions for each sample, the quality of genotypes produced and their parity with previously produced data, and the repeatability of genotyping results. In cases other than multifactorial diseases and traits, the successful genotyping of genetic variants is also ensured visually one by one from the raw data produced in the laboratory.
The post-processing of genotype data by means of calculation (imputation, risk analyses) observes established methods and quality requirements. If a genetic variant planned for a gene test does not pass the prescribed variables for imputation reliability, it will not be included. Some extremely rare genetic variants cannot be imputed at all if they do not appear in the population data as the basis for imputation.