Prerequisites for effective genetic counseling.

The definition of genetic counseling is: 

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition (REF: National Society of Genetic Counselors' Definition Task Force, Resta R,Biesecker BB, Bennett RL, Blum S, Hahn SE, Strecker MN, Williams JL. A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns. 2006 Apr;15(2):77-83).

The most important requirement for genetic counseling is an accurate diagnosis of the disorder. Accurate diagnosis depends on the skill and service of clinicians trained in clinical genetics, results of diagnostic tests performed in laboratories equipped to perform and interpret the required assays and obtaining a detailed family history (pedigree).  

For instance, in the case of multiple miscarriages – it is the obstetrician or gynecologist who has to identify the patient who could benefit from genetic testing.  Couples with two or more spontaneous miscarriages are considered at a higher risk of being a carrier of a balanced translocation and therefore at risk of a fetus with an unbalanced karyotype.  This risk would be higher if there are family members who have experienced spontaneous miscarriages or other clinical indications of chromosomal abnormality (infertility, neonatal deaths, congenital abnormalities and developmental delay).  Use of appropriate words, language and techniques are essential to obtain critical information.  There are a number of reasons for miscarriages.  Chromosome abnormalities is one only one of them (http://www.aafp.org/afp/2005/1001/p1243.html).  Genetics counselors have to develop skills to obtain as much information as possible from the couple to provide the most accurate information to help the couple. An important task of genetic counselors is to obtain an informative family history (pedigree).  Unless an obstetrician or gynecologist refers a patient to a genetic counselor this essential step of obtaining a family history may be missed during the clinical work up.

Access to laboratories that can provide a reliable and accurate report is important for effective genetic counseling.  Genetic counselors play a major role in evaluating the standards of laboratories.  

It is critical that the couple understands the results to act upon.  Genetic counselors have to be comfortable with the scientific information to convey the information to the couple and ensure that the couple understands the information provided to them. A variety of teaching tools may be required to adequately educate the family on the genetic basis, recurrence risk, management etc.

Spontaneous abortion is used as an example here; the scenario could be more complicated for other disorders.  There are a number of disorders with significant similarities in phenotype but with different genetic basis (different genes as well as different patterns of inheritances).  In some instances the skill of a well trained clinician, to make a clinical diagnosis, is imperative before a laboratory test is performed to make or confirm the diagnosis.  This is especially important as many laboratory investigations for genetic disorders are expensive.  Therefore the most informative laboratory testing should be considered based on the clinical diagnosis.

Once a diagnosis has been confirmed, management may involve a variety of options, depending on the situation.  In the case of prenatal diagnosis the decision may be termination of pregnancy or continuation of pregnancy (that may be of a high risk nature).  In the case of post-natally diagnosed cases, the needs may be one of many (surgical, clinical, nutritional/dietary, physical therapy, educational etc).

When establishing a genetic counseling service, the question should be – are the pre-requisites in place for adequate genetic counseling?  

Are there well trained clinicians who can identify patients/families who can benefit from genetic counseling?

Do clinicians take detailed family histories?  If not, do clinicians refer patients to genetic counselors to obtained family histories as well as co-ordinate testing?

Are laboratories that can provide reliable testing available?

If applicable, do clinicians explain the genetic basis of a disorder to the patients?  If not do they refer the patients to trained genetic counselors?

Are there adequate facilities for safe termination of pregnancy?  Are there adequate facilities for monitoring high risk pregnancy and deliveries?

Are there adequate facilities for clinical and therapeutic management for post-natally diagnosed cases?  Are there support services available for patients and their families?

 Optimal genetic counseling is a relatively complex process that requires a variety of facilities.  Identifying these facilities or developing them is critical before genetic counseling is offered as a service.