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The International BMMRD Consortium

Genetic counselling

General considerations

The genetic counsellor plays a key role in the management of families with BMMRD.

As in any clinical encounter, counsellors must be sensitive to the diverse cultural and religious beliefs held by families.

There may be a cultural acceptance of consanguineous marriage and discussions of inheritance as a result of such a relationship must be handled with great care and considerable sensitivity. For cultural or religious reasons, some families may not be comfortable with genetic testing. Despite hesitation to proceed with genetic testing, these families can elect to undergo cancer surveillance.

Pre- and perinatal counselling and family planning

Future reproductive decisions are important for parents of affected children and for patients in their reproductive years. Identification of biallelic MMR mutations may provide families options including, for example, pre-implantation genetic diagnosis or prenatal testing through chorionic villous sampling or amniocentesis.

Parents can be presented with options of selective implantation of unaffected embryos, termination of pregnancy or introduction of cancer surveillance at the birth of the child.

Resources

SickKids Cancer Genetics Program