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Development of pharmacogenetic tests and improvement of autosomal ancestry DNA test
Linköping University, Department of Clinical and Experimental Medicine.
2010 (English)Independent thesis Advanced level (degree of Master (Two Years)), 20 credits / 30 HE creditsStudent thesisAlternative title
Utveckling av farmakogenetiska test och förbättring av autosomalt ursprungstest (Swedish)
Abstract [en]

This master thesis was performed at the personal genomics company DNA-Guide Europa AB. The goal was to create DNA tests for drug response and to update the already existing DNA test for autosomal ancestry.

The DNA tests for drug response: The objective of this part of the master thesis was to create individual DNA test for response to each drug within different groups of medicines. The tests were meant to interest private customers. DNA-Guide uses a microarray technique for the DNA-analysis and this delimited the choice of SNPs. Inserts, deletions, repeats and copies of a whole gene can be difficult to implement on the microarray chip. The SNPs and studies used as a base for the tests had to fulfil several criteria. The studies must be large enough to prove that the association between the genotype and the response to the drug is valid among Europeans, since it’s the clientele of the company. The found association must also be strong enough to be of interest for a DNA test at DNA-Guide.

If the SNPs could be implemented on the microarray chip a customer report was created about the possible results. The report had the same structure and design as those for the existing DNA tests at DNA-Guide. The work resulted in DNA tests and reports for medicines within the seven groups of medicines; anticoagulants, medicine against high cholesterol, blood pressure lowering medicine, asthma inhalers, antidepressants, birth-control pills and antiretroviral drugs.

The DNA test for autosomal ancestry: The purpose of the update was to enhance to customers understanding of their results and the construction of the test. The update resulted in a description of how the used algorithm processes the results (from the DNA analysis) and a guide to interpret the results of the test.

Conclusions: Both the DNA tests for drug response and the updated DNA test for autosomal ancestry can add value for the customers at DNA-Guide. The DNA tests for drug response can offer an explanation to why a medicine does not have an effect or reveal if the customer has higher risk of adverse effects. Even though recommendations for dosage or treatment could not be provided in almost all of the created DNA tests, being aware of the higher risk can be the first step to avoid adverse effects. The update of the DNA test report for autosomal ancestry resulted in a better description of the algorithm and limitations of the test, which can enhance the customers’ understanding of their results.

Place, publisher, year, edition, pages
2010. , 43 p.
Keyword [en]
SNP, pharmacogenomic, DNA test, ancestry, micorarray
National Category
Natural Sciences
URN: urn:nbn:se:liu:diva-57977ISRN: LiU-IKE-EX--10/06--SEOAI: diva2:329606
2010-06-03, Björken, Hälsouniversitetet, Linköping, 14:15 (Swedish)
Available from: 2010-12-14 Created: 2010-07-12 Last updated: 2010-12-14Bibliographically approved

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Rosén, Annie
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