consent has to be obtained from all individuals from whom DNA has been
isolated and on whom mutation screening or linkage analysis has been
undertaken. Once a genetic mutation has been identified and confirmed in a
subject/family with a history of Retinal Degnerative Disorder (RDD), the
delivery of results will be as follows:
Genetic Counsellor will contact the family (individual or principal family member) by telephone, followed by a
letter, informing them that the disease-causing mutation has been found in
their family. Included with this letter will be the option to receive their
detailed results. Their signature on a consent form will be required along
with details of the clinician/ophthalmologist of their choice who they wish
to have deliver their results to them. The patient thereby gives us consent
to release their molecular diagnostic results to the
clinician/ophthalmologist/genetic counsellor as stated on the form.
Greenberg will contact the professional of the individualís choice and
send the results to her/him. Attached to this will be a letter of
recommendation regarding the delivery of the genetic test results,
counsellor information for post-result follow-up, together with references,
where applicable. Should there be any need to study additional family
members, this will be discussed with the clinician and a course of action
will be decided upon as to who makes the contact and what the family is
individual or principal family member will
be contacted by their managing clinician and personally given the genetic
result. Thereafter, the family members who would like to receive their
results need to contact this division or their doctor. A member of the
genetics team will follow-up within a month of the sending the report to
ascertain what has transpired. A plan of action as to how the results
are delivered and whether predictive counselling is required will depend on
the nature of the results and also the decision of who else in the family
will and should be told. This will be discussed with the individual and
decided upon, in consultation with the clinician/counsellor.
individual retains the right at all times to either receive or refuse the
costs involved in this process of informing subjects of their molecular
results ought to be borne by the participants.
genetic information is regarded as strictly confidential. Only information
relating to the potential genetic cause of the inherited RDD will be
released to the individual concerned, personally. No other genetic
information or family information produced by this study will be released to
any one else, including other family members. At this stage, it needs to be
stressed and understood that no additional treatments will be available as a
result of these test results.
need to be informed that there is no financial compensation, commercial
benefits or other rewards for participation in this programme. There may be
no direct benefit as a participant other than the possible medical advances
and greater understanding of the genetic condition in the family that may
result if causative genes are found.
will be informed and assured that only other qualified research
investigators may study their DNA samples, if necessary, but only for the
purpose of further investigations of genetic factors causing inherited
retinal eye disease.