Very often in your practice, you encounter a health problem related to genetic abnormalities. As a clinician, you need answers to the questions, like, 'Whether the disease in question is genetic in origin?, 'What genetic tests are required?, 'How, When and Where can these tests be done? 'What are the various options available to deal with the genetic disorder? 'Is there is any risk of its recurrence or occurrence in the family? And what can be done for its prevention?, 'Is there any satisfactory management available for the genetic disorder in concern?
Many times question arises, "When there is no treatment available for the chromosomal or genetic disease, then why genetic tests should be done?"
1) Many of them ask, "Why didn't our doctor tell us about the genetic tests earlier?"This is especially observed in couples with h/o more than 3 miscarriages, couples who had lost one of their baby before or after birth and was not advised investigation in time, couples who have lost a child with likely genetic disease who was not investigated, couples having a second child with genetic problem etc. There are many reasons for the patients to ask the above question. Best way is to advice "Complete Genetic Health Assessment" in all the cases of genetic or suspected genetic disorders.
2) Many times a patient/ couple/ family have a genetic test done from some diagnostic center, but does not know what does that mean for them. It is not the test report that is important for the patient, but the interpretation of the test and the possible remedy or options suitable for further course of action for them. They need be explained about the test before as well as after. Even a normal report has a lot of meaning for the patient. Many times normal report does not mean there is no genetic abnormality in the patient and needs to be explained about the possibilities and options available. An abnormal report certainly needs to be explained to the patient for understanding the impact, options, management and further evaluations. Best way is to refer your patient for complete genetic health assessment and genetic counseling without ordering any genetic tests directly. Do not get your patient's tests done directly from the diagnostic set-ups, where there is no one to explain you the reports in relevance to the patient's problems.
In this age of Information Technology, Most of the Patients are well educated and find out about their problems from internet or books or other sources. If they do not get appropriate attention and information from their doctor, they keep on shifting and shopping from doctor to doctor for getting answers to their concerns and problems. Patients and families with genetics problems are most likely to change and blame their doctor, if they do not receive appropriate advice for genetic health assessment & tests, where it is needed; if they are not counselled properly and adequately or if they receive misleading information.
The best way is to refer/advice your patient to see the Medical Geneticist who can explain the situation and suggest the further course of action. Sometimes patients are not willing to do the genetic examinations, this happens especially when they are not explained about the importance of the genetic health assessment.
Do not let your patient blame you for not doing something necessary for the diagnosis, prevention or management of their health concern which is most relevant genetic disorders.
It has been observed that sometimes the samples for genetic testing are not collected as per the requirement and as a result, there is a problem in the processing and reporting of the genetic tests. Whenever you have a patient of genetic disorder/ likely genetic disorder, as far as possible, please send the patient/ couple/ family for genetic counseling, so that they can be counselled about the pre-test and post-test possibilities, requisite tests and the appropriate sample can be collected for the testing.
In a medical set-up requiring genetic analysis, the taking of a blood or tissue sample for analysis may be the first and only physical involvement of the patient in the genetic aspects of the study. This sample therefore is key link between the patients the patient's medical record, doctor and the results of genetic analysis.
In case, if it not possible for the patient to visit GHRC, collect appropriate samples as per the instructions were given. If you are not sure about the sample to be collected, the test to be prescribed etc, you can contact us at 0253 2350626, 9860358501, 9822885558.
Call for sample collection containers, media and literature 0253 2350626, 9860358501
DO NOT collect POC/fetal tissue in formalin. Formalin fixed sample can not be used for culture and Karyotyping. Fluorescent- in-situ Hybridization (FISH) can be performed on formalin fixed sam however, FISH has no role in cytogenetic analysis of the miscarriage as miscarriage can occur due to any chromosomal numerical or structural abnormalities and FISH can be performed only for chromosome 21,13 18 and sex chromosomes for onlynumerical abnormalities.
DO NOT freeze (deep freezer) the samples before sending as extreme temperature fluctuations damages the tissue. Samples can be kept in refrigerator at 4 degree overnight. Collect samples only in sterile containers. You can ask for containers from GHRC. Send the sample to GHRC on the following address, so as to reach within 24 hours. Samples can be sent in person or by courier. Ask for the best courier/transport
© 2017 We care . All rights reserved | Design by Akshay Sonavane