Appropriate Referrals and Guidelines:
Both of these people now can come in and be tested. One knows exactly what the disease looks like. She sees it in the mirror. The other hasn't a clue. They're both going to come in to find out something inevitable, for which there is no treatment. Now, this personal--what we call the personal burden--is your experiential background. In genetic counseling, we use that to help people, to facilitate their decision-making. Because of the enormity of this for Huntington, it has been used as a prototype to build in a set of guidelines because it's tough. This is overwhelming. It doesn't get much harder than this.
There has been a safety net and protocols built into the system where you really shouldn't be getting tested without some element of protocol in place. Usually meaning some counseling, neurological evaluation, psychological support, sometimes neuropsychological support. Different centers have different elements, different components of the protocol, but any of us who are authorized testing centers, literally authorized by the Huntington's Disease Society of America, which was family driven, not MD driven--family driven. So that there could be some supportive communication making sure that people really understand what they're asking for.
And one of the guidelines is that we do not test children under the age of 18 unless they're symptomatic. But an asymptomatic, healthy child under the age of 18 is not tested because it's not an autonomous situation. They need to understand and to ask for it themselves. They need to have the maturity and understanding to sign their own consent form. Then we'll have a chance to talk to them.