臨床遺傳學將研究與臨床聯系起來，為臨床遺傳學家轉化我們對遺傳疾病分子基礎理解的進展。該雜志發表高質量的研究論文，簡短的報告，評論和微型評論，連接醫學遺傳學研究與臨床實踐。特別感興趣的題目有:?將基因變異與疾病聯系起來?基因組重組和疾病?表觀遺傳學和疾病?將基因型轉化為表現型?復雜疾病的遺傳學?遺傳疾病的管理/干預?基因疾病的新療法?發育生物學，因為它與臨床遺傳學有關?關于與遺傳疾病共存或處于遺傳疾病風險中的心理和行為方面的社會科學研究

Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice.Topics of particular interest are:? Linking genetic variations to disease? Genome rearrangements and disease? Epigenetics and disease? The translation of genotype to phenotype? Genetics of complex disease? Management/intervention of genetic diseases? Novel therapies for genetic diseases? Developmental biology, as it relates to clinical genetics? Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease