Genomics Editing and Proofreading Services

A variant was reported as likely pathogenic in 2019. A family made decisions on that basis — surveillance, surgery, testing for relatives. In 2024 the same variant is reclassified as uncertain, because the evidence that supported it turned out to be weaker than it looked. Somebody has to write to that family, and what the original report said about the possibility of reclassification determines whether this is a routine update or a catastrophe.

We edit what genomic laboratories and services produce — variant classification rationales and evidence summaries, laboratory reports for clinicians, reclassification and recontact communications, classification policies and criteria documentation, gene panel and test scope descriptions, incidental and secondary finding policies, validation and quality documentation for assays, data sharing and submission documentation, research and clinical result return material, and referral and test selection guidance for clinicians. Our editors work on the report a family will act on for twenty years.

The variant classification rationale is where a genomic report is either a durable document or a snapshot mistaken for a fact, and its failure is reporting the classification without the evidence that produced it. A report stating "likely pathogenic" hands a clinician a conclusion and no way to weigh it. We work through these so the evidence codes applied are listed with what each one is based on in this specific case — the population frequency and in which database, the functional study and its assay, the segregation data and how many meioses — since a likely pathogenic call resting on one moderate line of evidence and one resting on four are the same words and different facts; so the classification framework and its version are named, because criteria change and a 2019 call was made under different rules; so the possibility of reclassification is stated in the report rather than in a policy, with the direction it is most likely to move and what would move it; so the recontact policy is explicit about who is responsible for asking again — the laboratory, the clinician or the family — given that everyone assumes it is someone else; so uncertain results are written so that a non-specialist clinician does not convert them into a positive or a negative; and so what the test did not cover is stated as clearly as what it found. Reports written this way survive being reread years later.

Everything you send is treated in confidence, including reports, variant data and family information. We are editors rather than clinical scientists, geneticists or counsellors, and we offer no view on classification, evidence or clinical management. What we can do is make the report show its reasoning.