Sunday, December 27, 2009
Genetic counseling – the counselor’s perspective
Genetic counseling encompasses providing the patient/family with information essential for making an informed decision. How does one evaluate the efficacy of counseling? Genetic counseling should be non directive in that counselors should not impose their values or decisions on the patients and families they counsel. Therefore in evaluating a counseling situation, it would not be appropriate to assume a certain outcome and then determine if that is what is achieved. One method of determining the success of counseling would be to evaluate how much the patient/family understood and retained the information provided during the counseling session. Many factors could influence the patients understanding of the information provided. One of them is the educational background. Another important factor is the emotional status of the patient at the time they are provided with the information, which in turn would depend on the clinical situation they are involved in. Yet another factor would be the social and cultural background of the patient/family. These important factors have to be controlled for when studying the efficacy of genetic counseling.
Friday, December 4, 2009
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.
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.
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