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To understand a person's genetic make-up, a laboratory technician trained in genetics will examine a person's blood and put together a profile of a person's chromosomes, called a karyotype. This test analyzes the chromosomal content of the cells and looks at the structure of the chromosomes to help diagnose chromosomal disorders.

The karyotype shows the chromosomes arranged in pairs based on their size and other features. By being looking at them this way, the technician can see if any of the chromosomes do not look the way they should, which may indicate a chromosomal disorder. Sometimes a firm diagnosis is not possible. Other tests include molecular tests and biochemical tests. Sometimes a diagnosis may be based solely on clinical signs and symptoms, if testing is not necessary or not available.

Genetic counselling is often offered with genetic testing and karyotype testing. Genetic counselling is intended to provide patients with a clear understanding of how genetics plays a role in their given situation and what their options are at that point.

Whether a person wants to engage in genetic testing is entirely their choice. In fact, testing for such problems is commonly offered to some women. Amniocentesis is offered to women with a family history of a certain disorder or who themselves have a disorder, women over the age of 35, and women who have questionable results from an ultrasound or from one of the various screening tests offered in pregnancy.

Amniocentesis is a diagnostic test that involves examining cells shed naturally from the developing baby, or fetus, into the amniotic fluid that surrounds the baby.

Genetic Testing and Counseling for Thalassemia -

Amniocentesis can indicate chromosomal disorders like Down syndrome, genetic disorders like cystic fibrosis, and neural tube defects like spina bifida. Chorionic villus sampling CVS , which is similar to amniocentesis, and ultrasound are other methods of genetic testing. CVS can be performed much earlier in the pregnancy than amniocentesis. Couples who are at high risk of heart disorders will likely also be offered fetal echocardiography after an ultrasound if the findings are of concern. While prenatal testing can alleviate some anxiety, it is important to know that no amount of genetic testing can guarantee that a child will be healthy.

When indicated, geneticists can test for some genetically determined conditions so that couples considering having a child will know what the odds are of having a child with a particular disorder.


This testing is only done when a couple is at increased risk to have a child with a certain condition, based on their ethnicity, their family trees, or their medical history. Genetic testing of the parents can be done prior to conception or during the pregnancy. Genetic testing is very valuable since having a diagnosis provides the basis for how a disorder should be managed. It is worthwhile to speak to a genetic counsellor to review options once the risks are known.

During pregnancy, by testing the baby's chromosomes, the doctor and the parents will have additional knowledge about the health of the pregnancy. Some parents may decide to end a pregnancy if a serious problem is identified. Others will proceed, and arrange for support or treatment if it exists.

Also, by testing and trying to determine the cause of certain disorders, efforts can be made to find therapies to help prevent them.

Genetic counsellor

It is not possible to test a pregnancy for every genetically determined disorder known. In addition, although a normal genetic test or karyotype result is reassuring, doctors can never guarantee the birth of a completely healthy baby.

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But most babies with normal test results are born healthy. Some types of genetically determined disorders can cause the mother to have a miscarriage. This can happen very early in the pregnancy.

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  • Women who have several miscarriages will likely be offered genetic investigations to help determine the cause. In other instances, the pregnancy will run full term to 40 weeks and the child will be born with some sort of genetic disorder. When disorders are diagnosed prenatally, arrangements can be made to have the baby delivered at a high-risk hospital so they can receive prompt treatment. Unfortunately, doctors are not able to fix a genetic or chromosome change once a condition is identified prenatally.

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    When this situation arises, a couple may choose to continue or to terminate the pregnancy. When continuing the pregnancy, knowing ahead of time that there is a problem means that the mother can get the appropriate care and specialist support during pregnancy and immediately after giving birth. This is helped by genetic counselling which may be provided by a team including a genetic counsellor. It is also helpful to see a counsellor in the event that a pregnancy is terminated to help deal with the associated psychological stress.

    This can help individuals make personal decisions about their health, pregnancies, or their child's health care if they themselves have a genetically determined disorder or are at risk. Geneticists assess and counsel individuals and families who have a genetically determined disorder, who may be at an increased risk of having a child with a genetically determined disorder, or who have a baby with a birth defect or genetically determined disorder.

    Geneticists provide information and supportive counselling, focus on ethical issues, coordinate diagnostic genetic testing, serve as patient advocates, and put families in touch with community resources such as support groups. Geneticists are also involved in teaching and research. Skip to main content. Trusted answers from The Hospital for Sick Children. It looks like your browser does not have JavaScript enabled. We especially encourage candidates from groups currently under-represented in the genetic counseling profession, including people with disabilities, men, and people from ethnic and racial minorities.

    You will be following instructions and deadlines for the ScM degree in the Department of Health, Behavior and Society. This application website will provide instructions for submitting all supporting documents, which include:. The GC Admissions Match has been established to enhance the process of placing applicants into positions in masters-level genetic counseling programs that are accredited by the Accreditation Council for Genetic Counseling ACGC. The Match uses a process that takes into account both applicants' and programs' preferences. All applicants must first register for the Match with NMS before applying to participating genetic counseling graduate programs.

    Definition of Genetic Counselling

    At the conclusion of all program interviews, both applicants and programs will submit ranked lists of preferred placements to NMS according to deadlines posted on the NMS website. The binding results of the Match will be released to both applicants and programs simultaneously in late April. For Fall admissions, there is not a formal place for entering the NMS match number into the online Johns Hopkins application. The genetic counseling coursework, student supervision, coordination of clinical rotations and Accreditation Council for Genetic Counseling ACGC accreditation are overseen by:.

    Complete list of Program Faculty Instructors. Complete list of Clinical Supervisors. To learn more about genetics, the field of genetic counseling and organizations that work in these areas, click on the links below. Genetic Counseling Training Program. More about GCTP. Graduate Program Overview. Completion of undergraduate level courses in biochemistry and genetics. Counseling experience, either paid or voluntary. In addition, prior coursework in statistics is strongly recommended. Deadlines Applications must be submitted and completed by the January 15 deadline to be considered.

    What is genetics?

    Faculty and Clinical Supervisors. Charles Venditti, M. Meetings and Workshops. During the symposium, alumni were invited to give presentations about current research projects. All alumni participated in seeking feedback from the group about potential future research endeavors.