I don't want more genetic testing

My surgeon could have ordered the genetics test for me, but he said that I would have to go to San Francisco to see a special counselor  who would go through  the results with me. It's a big stress, and sometimes it's better not to know. I chose not to know.  Let your sister get her own test, if she wants to. After all, you are not identical, right?

Hi sunshinegal:

I understand your feelings. Under applicable guidelines, a Genetic Counselor should provide expert advice regarding the best strategy for familial testing in order to obtain the most informative results (i.e., which affected person in the family should be tested first, etc.). However, if one person does not wish to be tested, there may be other strategies available that can provide potentially informative results for family members.

NCCN Guidelines for "Genetic/Familial High-Risk Assessment: Breast and Ovarian" (Version 2.2016) reflect strategies designed to obtain the most informative results and thereby positively identify a deleterious mutation(s) in a family (if present). Thus, the guidelines indicate a preference for testing a person already diagnosed with a relevant cancer first (as opposed to a person not yet diagnosed), focusing on those whose disease is most likely to be inherited (and not sporadic):

"For the majority of families in whom mutation status is unknown, it is best to consider testing an affected family member first, especially a family member with early-onset disease, bilateral disease, or multiple primaries, because that individual has the highest likelihood for a positive test result."

"If more than one family member is affected with cancers highly associated with a particular inherited cancer susceptibility syndrome, consider testing first a family member with youngest age at diagnosis, bilateral disease, multiple primary cancers, or other cancers associated with the syndrome, or most closely related to the proband/patient."

"The genetic testing strategy is greatly facilitated when a deleterious mutation has already been identified in another family member. In that case, the genetic testing laboratory can limit the search for mutations in additional family members to the same location in the gene."

Whether you are the best candidate to be tested and/or whether your mother is available and might be a reasonably informative choice for additional testing may be points of further inquiry. You could ask your own Genetic Counselor for her views on this question, to ensure you hear all advice first-hand.

Best,

BarredOwl

Hi Jen:

I agree that a person may decline genetic testing if they wish. I am only suggesting that there might be a reasonable alternative that meets everyone's needs (including sunshinegal's desire for no further testing).

BarredOwl