Table 4 MilSeq adjustment category organization: select transcript excerpts.
Adjustment category | Transcript excerpt | Genome Resource Center rationale |
|---|---|---|
Knowledge limitation • Lacking sufficient baseline knowledge and/or experience to comprehensively counsel the patient beyond the information provided in the report | “What this would be testing for specifically is, […] we know you have this gene: GJB2. […] This is your mutation, right? So, we need to know, is her GJB2 gene affected?” | The health-care provider understands autosomal recessive inheritance, counseling reproductive risk and offering carrier testing for the patient’s spouse appropriately. However, the health-care provider offers carrier testing only for GJB2 and not GJB6, because he is unaware of the digenic relationship between the genes and it is omitted from the report. |
Minor • Errors posing minimal risk to optimal care | “Yes, you have this one variant, but your husband, partner, would have to have the same variant. […] Let’s say your husband just so happened to also have the same mutation. […] There’s a 25% chance that your child will not be affected, will get two good genes. There is a 50% chance that your child will be a carrier, just like you are. […] Then there’s a 25% chance that your child would have the disease and would have two affected alleles on that gene.” | The health-care provider understands autosomal recessive inheritance, counseling transmission appropriately. However, the health-care provider implies that the couple must have identical variants for reproductive risk, rather than any pathogenic variant in the same gene. |
Moderate • Errors posing some degree of suboptimal care | “I’d seen that you were going for fertility treatments, is that correct? […] And I noticed you were shorter in stature. So, Turner syndrome is a genetic condition in which one of your X chromosomes is not there. Typically, these patients can’t get pregnant at all, though. They have very kind of small ovaries that don’t really release eggs. […] Some women can have a partial Turner syndrome so to speak, but since you’re pregnant probably unlikely.” | The health-care provider excludes a mosaic Turner syndrome differential diagnosis based on the patient’s self-reported pregnancy, despite provocative clinical features such as significant short stature compared with first-degree relatives and documented fertility concerns. It was explained to the health-care provider that many women with mosaic Turner syndrome can achieve pregnancy but are still at risk for other syndromic health complications (e.g., cardiac) and may have some reproductive risk. |
Critical • Errors endangering patient safety | None identified. | Not applicable. |
