Reproductive genetic screening for information: evolving paradigms?

Reproductive genetic screening has introduced the possibility for pregnant women to learn, during the pregnancy or sometimes earlier, about the likelihood of their baby being affected with certain genetic conditions. As medicine progresses, the options afforded by this early information have expanded. This has led to a shifting paradigm in prenatal screening, wherein the early knowledge is seen as useful not solely for its inherent value to the pregnant woman, but also as enabling an expansion of conditions whose identification may allow early intervention and clinical impact.

Known unknowns: building an ethics of uncertainty into genomic medicine.

Background: Genomic testing has reached the point where, technically at least, it can be cheaper to undertake panel-, exome- or whole genome testing than it is to sequence a single gene. An attribute of these approaches is that information gleaned will often have uncertain significance. In addition to the challenges this presents for pre-test counseling and informed consent, a further consideration emerges over how - ethically - we should conceive of and respond to this uncertainty.

Symmetrical enchondromatosis is associated with duplication of 12p11.23 to 12p11.22 including PTHLH.

We describe a patient with striking generalized symmetrical enchondromatosis of the tubular bones and a de novo duplication of chromosome 12p11.23 to 12p11.22.

Childhood genetic testing for familial cancer: should adoption make a difference?

Professional guidelines and practice in clinical genetics generally counsel against predictive genetic testing in childhood. A genetic test should not be performed in a child who is too young to choose it for himself unless that test is diagnostic, will lead to an intervention to prevent illness, or enable screening. It is therefore generally considered unacceptable to test young children for adult-onset cancer syndromes.