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 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.

Genetic counseling and the “family” in India

The discipline of genetic counseling was developed to empower families to make decisions related to reproduction when faced with a risk of a genetic disorder. In these countries (most of them being developed countries) for decisions related to health and reproduction, the patient and family are defined as the affected individual and the partners respectively. Involving other members of the family in the decision making process is a choice made by these primary individuals. This basic tenant may not be the case in a country like India. For example when evaluating repeated spontaneous abortions, in many instances, the female patient is accompanied not by her male partner, but by her mother or her partner’s mother. Sensitive personal information, which in the western nations would be considered confidential and meant only for the patient or the couple is expected to be shared with those individuals accompanying the patient. Is this appropriate? If the patient or couple are eventually going to include these individuals in the decision making process – maybe it is appropriate for the medical personnel (in this case the genetic counselor) to involve these members of the family in this process from the very beginning and all through the process. This inclusion will ensure that these members of the family are receiving the required important information first hand from a trained professional. The couple should be informed on the nature of information that will be included in the counseling session and offered the opportunity to decide who is included in the counseling session. Developing a protocol for genetic counseling which includes educating the patient/couple on the nature of information that would be provided and offering them the opportunity of selecting the members of the family they would like included during the session should be an important part of this protocol. As a first step towards developing such a protocol a project should be undertaken to study the issue of including family members during genetic counseling.

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.

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.