For health Professionals

Indication for the referral to GHRC

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?

Situations where you might be facing a patient with genetic disease

  • Couples with infertility not responding to conventional management
  • Couples with recurrent spontaneous miscarriages (more than 2 )
  • Couples with Intrauterine deaths, stillbirths, Intra-uterine growth retardation
  • Couples with family history suggestive of genetic disorder or carrier status
  • Couples with previous neonatal death, childhood death
  • Couples with history of a child with congenital malformation or mental retardation or developmental delay
  • Couples with consanguineous marriages
  • Women with primary or secondary amenorrhoea
  • Girls or boys with underdeveloped secondary sexual characters
  • Individuals with abnormal growth patterns like short stature or excessively tall stature
  • Children with ambiguous genitalia
  • Children with mental retardation
  • Children with failure to thrive and showing metabolic imbalance
  • Pregnant women above 35 years of age
  • Pregnant women with abnormal USG or Abnormal Triple Marker Test
  • Individuals or families with known genetic diseases
    An Importance of Genetics in Medical Practice

    Many times question arises, "When there is no treatment available for the chromosomal or genetic disease, then why genetic tests should be done?"

  • For those affected by the genetic disease, the quality of life can be improved so as to help the affected live the life they love
  • No cure, no matter, There is strong evidence to say that Parents want to know child's genetic risk for diseases.
  • Genetic Testing helps in Reproductive Decision Making Patient/couple/ Family can be prepared for informed choices.
  • Unnecessary tensions of uncertainties can be avoided
  • Unnecessary loss of time, money and peace of mind can be prevented
  • Recurrence of a disease can be prevented in a family at risk
  • Correct options can be made available to the affected
  • People have different reasons for being tested or not being tested. For many, it is important to know whether a disease can be prevented or treated if a gene alteration is found. In some cases, there is no treatment. But test results might help a person make life decisions, such as career choice and family planning etc.
  • Common observations at GHRC Regarding Patients

    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.

    Patients keep changing doctor....

    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.

    Problems with Sample Collections for Genetic Testing

    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.

    Samples to be collected for Genetic Testing

    1. From Couples /child/individual: peripheral Blood:
    In strict aseptic conditions, collect 3 ml peripheral blood in a heparin vacutainer. If heparin vacutainer is not available, take 200 micro-litre (0.2ml) of sodium heparine in a syringe and draw 3 ml of blood, bend the needle, seal the piston and send to GHRC properly sealed
    2. Fresh IUD or Still birth fetus:
    Draw 1-3 ml blood as above from the umbilical cord (after cleaning the site with betadine or alcohol)
    3. Abortus/Product of Conception:
    Collect 20-30 mg of fetal material/ Placental tissue in 250 ml normal saline/Tissue culture media and add 1 ml of gentamycin (40mg).

    Call for sample collection containers, media and literature 0253 2350626, 9860358501

  • Blood for single gene disorders:
    Enquire before obtaining the sample. Generally, 3-4 ml blood is to be drawn in EDTA vacutainer. It is best to send the patient/family to GHRC for counseling and sample collection There are different ways of testing the genes like common mutation analysis, linkage analysis, sequencing, gene packages, isolated genes is not possible to remember all this genetic testing information by every clinician. For getting the most out of the testing with minimal expenses and maximum accuracy, it is better to refer the patient/ family for genetic counseling and assessment of the necessity of the genetic and non-genetic tests.
  • Fetus for Autopsy:
    Collect the intact fetus for genetic autopsy in 10% formalin after obtaining the blood or fetal tissue for Karyotyping or genetic testing as the case may be. GHRC needs the requisition form mentioning the indication and request for autopsy and the USG report if available
  • Prenatal testing.
    Please send the patient for prenatal testing to GHRC. Prenatal sampling procedures like CVS (Chorion Villous Sampling) or Amniocentesis should be performed at the registered genetic clinic only in expert hands. CVS can be best performed at 11 weeks of gestation while Amniocentesis can be best performed at 16weeks of gestation.
  • Paternity Testing:
    Send the patient to GHRC for completion of the formalities, pre-test counseling and sample collection.

  • While collecting the samples
    please remember ...

    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

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