Genetic consult – from a patient’s perspective.

What are the expectations of a patient/family going into a genetic consult? What is the objective of the genetic professional going into a genetic consult? It is very important that the genetic professional makes every effort to learn about the patient/family’s expectation about how the session is going to help them. Asking the patient to provide information on their expectations in addition to family history and clinical history is valuable. In return the genetic professional has the responsibility to provide the patient with realistic expectations.
An example is expectations prior to prenatal diagnosis. It is not unusual that the couple may be under the impression that the procedure guarantees “a perfect baby”. They have to be counseled on the limitations of the procedure in terms of what it can and cannot diagnose and that there are a number of disorders that cannot be diagnosed by the tests being performed. Patients have to understand that there still exists the possibility of residual risk of a child with a genetic abnormality or congenital abnormality after a normal result.
What is a patient’s understanding of drawing blood for karyotyping? A potential misconception is that treatment to change the phenotype is possible. It is important that the family understands that karyotyping is a diagnostic modality and one that is useful in estimating recurrence risk and not one which will change the observed phenotype.
Counseling prior to screening tests such as maternal serum screening is extremely valuable. Patients have to be educated that screening tests have false positives and false negatives and that follow up studies may be warranted. If they are uncomfortable with the possibility of false negative, they should be offered the option of more definitive tests such as chorioic villus sampling or amniocentesis.
Every so often results of tests are ambiguous. This is particularly the case of aCGH in which the clinical significance of some copy number variations is impossible. Patients have to be prepared for such uncertainties prior to embarking on the investigation.