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.
Monday, October 19, 2009
The profession of genetic counselors
Clinical genetics is a sub specialty in medicine. To provide services in this field, a variety of professionals have to work as members of a team. In this piece I would like to describe the profession of genetic counselors - one member of the team.
From the perspective of clinical practice, genetic counselors perform a vital role in the interactions between the technical professionals and the patient. Effective practice of clinical genetics requires active participation of patients/family members. To enable this patients have to be educated on the basics of genetics, often when a child suspected of having a genetic disorder is being evaluated. In addition, making an accurate diagnosis requires obtaining essential information related to their family history – this can be a sensitive personal issue which can be time consuming and require good communication skills. Once a diagnosis has been made, information related to not only the clinical management of the disease has to be conveyed to the patient/family but also the inheritance pattern and recurrence risk has to be conveyed in a manner that avoids placing guilt on any individual. Often arriving at the diagnosis will require the coordination of activities involving multiple testing modalities, professionals and agencies and review of the literature. In the fast evolving field of clinical genetics, review of literature is also critical in providing the most effective service to patients.
Genetic counselors are professionals with an important role in all the above mentioned activities. To enable them to function effectively in the various tasks they are called upon to perform, they have to have to be knowledgeable in a variety of fields play an invaluable role in coordinating these activities. Therefore the profession of genetic counseling is ideally suited for those with not only an inquiring scientific mind but also good communication skills, organization capabilities and empathy for patients and the family.
From the perspective of clinical practice, genetic counselors perform a vital role in the interactions between the technical professionals and the patient. Effective practice of clinical genetics requires active participation of patients/family members. To enable this patients have to be educated on the basics of genetics, often when a child suspected of having a genetic disorder is being evaluated. In addition, making an accurate diagnosis requires obtaining essential information related to their family history – this can be a sensitive personal issue which can be time consuming and require good communication skills. Once a diagnosis has been made, information related to not only the clinical management of the disease has to be conveyed to the patient/family but also the inheritance pattern and recurrence risk has to be conveyed in a manner that avoids placing guilt on any individual. Often arriving at the diagnosis will require the coordination of activities involving multiple testing modalities, professionals and agencies and review of the literature. In the fast evolving field of clinical genetics, review of literature is also critical in providing the most effective service to patients.
Genetic counselors are professionals with an important role in all the above mentioned activities. To enable them to function effectively in the various tasks they are called upon to perform, they have to have to be knowledgeable in a variety of fields play an invaluable role in coordinating these activities. Therefore the profession of genetic counseling is ideally suited for those with not only an inquiring scientific mind but also good communication skills, organization capabilities and empathy for patients and the family.
Sunday, August 23, 2009
Requirements for establishing a clinical cytogenetics laboratory.
Theoretical knowledge is only a very small part of the requirements for developing a state of the art clinical cytogenetics laboratory. As in every field, planning to ensure that adequate resources are available is essential for establishing and operating a clinical cytogenetics laboratory. Clinical cytogenetics is both a technology intensive as well as labor intensive discipline.
The technology requirements are; Laboratory space, laboratory infrastructure (workspace, furniture etc), equipment (initial cost of purchase and annual maintenance contracts), recurring cost of disposables (glassware, tissue culture media, other chemicals). Budgeting appropriately for the initial establishment as well as maintenance and operations is an essential first step in setting up a cytogenetics laboratory.
Personnel: Qualified laboratory Director (preferably a Ph.D. trained in clinical cytogenetics – cytogenetic involves more than merely identifying chromosomes), laboratory technologists (minimum of two technologists; the number of specimens that can be processed per week per technologist will depend on the type of specimen, experience of the technologists, organization of the workflow etc.), administrative assistant, genetic coordinator/genetic counselor
Quality assurance is an important component of any laboratory. Accuracy of the results will depend on quality control during the pre-analytic (quality of specimen received, who ordered the testing, why the test was ordered, availability of adequate unique information on the patient for identification, and how the specimen is entered in the laboratory system for identification of the specimen throughtout the processing), analytic (procedure/s involved in the analysis) and post-analytic (how the results are reported to the referring physician) stages of the analysis. Written protocols on how quality is monitored during each of these stages is a must. Processes for investigating and preventing recurrence of errors and issues related to quality have to be available. Maintaining rigorous quality assurance requires resources for self inspections and inspections by accrediting agencies
Genetic counselors for explaining the results to the patients and coordinating follow up actions should be available as part of the services offered by any clinical cytogenetics laboratory. The significance of the services offered by a cytogenetic laboratory is only as good as what the patient takes away from the results – be it normal or abnormal.
The technology requirements are; Laboratory space, laboratory infrastructure (workspace, furniture etc), equipment (initial cost of purchase and annual maintenance contracts), recurring cost of disposables (glassware, tissue culture media, other chemicals). Budgeting appropriately for the initial establishment as well as maintenance and operations is an essential first step in setting up a cytogenetics laboratory.
Personnel: Qualified laboratory Director (preferably a Ph.D. trained in clinical cytogenetics – cytogenetic involves more than merely identifying chromosomes), laboratory technologists (minimum of two technologists; the number of specimens that can be processed per week per technologist will depend on the type of specimen, experience of the technologists, organization of the workflow etc.), administrative assistant, genetic coordinator/genetic counselor
Quality assurance is an important component of any laboratory. Accuracy of the results will depend on quality control during the pre-analytic (quality of specimen received, who ordered the testing, why the test was ordered, availability of adequate unique information on the patient for identification, and how the specimen is entered in the laboratory system for identification of the specimen throughtout the processing), analytic (procedure/s involved in the analysis) and post-analytic (how the results are reported to the referring physician) stages of the analysis. Written protocols on how quality is monitored during each of these stages is a must. Processes for investigating and preventing recurrence of errors and issues related to quality have to be available. Maintaining rigorous quality assurance requires resources for self inspections and inspections by accrediting agencies
Genetic counselors for explaining the results to the patients and coordinating follow up actions should be available as part of the services offered by any clinical cytogenetics laboratory. The significance of the services offered by a cytogenetic laboratory is only as good as what the patient takes away from the results – be it normal or abnormal.
Friday, August 7, 2009
Impressions of Clinical Genetics in India
This blog on “Clinical Genetics in India” is an attempt to initiate discussion among individuals interested in developing the field of clinical genetics in India. Clinicians, basic scientists, policy makers, patient advocates, journalists and any individual interested in the field are welcome to join the discussion. The hope is that this discussion will help understand the current state of clinical genetics in India, the need for clinical genetics and diagnostic facilities in India, the need for training professionals in clinical genetics and limitations for developing the required resources.
Currently there are pockets in India where clinical genetic services are available for patients. Relative to the size of the population the extent of service available is inadequate. One limiting factor is the inadequate recognition among clinicians of the importance of genetics in the practice of medicine. As regards the non clinical component, there are many individuals trained in the use of various techniques. Unfortunately, there are few who are adequately trained in working up clinical cases. Training of clinicians as well as basic scientists is only two important aspects that require improvement. Training genetic counselors is also extremely important in developing the field of clinical genetics.
Currently there are pockets in India where clinical genetic services are available for patients. Relative to the size of the population the extent of service available is inadequate. One limiting factor is the inadequate recognition among clinicians of the importance of genetics in the practice of medicine. As regards the non clinical component, there are many individuals trained in the use of various techniques. Unfortunately, there are few who are adequately trained in working up clinical cases. Training of clinicians as well as basic scientists is only two important aspects that require improvement. Training genetic counselors is also extremely important in developing the field of clinical genetics.
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