Genetics teamGGenetics teamGenetics teamEnglishNAChild (0-12 years);Teen (13-18 years)NANAHealth care professionalsAdult (19+) CaregiversNA2009-12-04T05:00:00ZJennifer Russell, MD, FRCPC11.000000000000045.0000000000000862.000000000000Flat ContentHealth A-Z<p>Geneticists and genetic counsellors can provide information and support if a child has been diagnosed with a genetic condition or if the family is at high risk.</p><p> This page explains how members of the genetics team assess the risk of having a condition with a genetic component.</p><h2> Key points </h2><ul><li> Genetic counsellors assess and counsel individuals and families with a medical history of a genetic disorder, who themselves have a genetic disorder, or who may be at an increased risk of having a child with a genetic disorder.</li><li>A geneticist is a specialized medical doctor who investigates the cause of a genetic disorder or birth defect.</li><li>Your child's doctor will refer you to the genetics team or clinic if they think your child has a condition with a genetic component. </li></ul>
Équipe de recherche génétiqueÉÉquipe de recherche génétiqueGenetics teamFrenchNAChild (0-12 years);Teen (13-18 years)NANAHealth care professionalsAdult (19+) CaregiversNA2009-12-04T05:00:00ZJennifer Russell, MD, FRCPC11.000000000000045.0000000000000862.000000000000Flat ContentHealth A-Z<p>Les généticiens et les conseillers en génétique peuvent fournir des renseignements et offrir leur soutien si un enfant a reçu un diagnostic de maladie génétique ou si la famille court un risque élevé.</p><p>Cette page explique la façon dont les membres de l’équipe de génétique évaluent le risque lié à une maladie à composante génétique.</p><h2> À retenir </h2><ul><li>Les conseillers en génétique évaluent et conseillent les personnes et les familles qui ont des antécédents médicaux de maladie génétique, qui ont eux-mêmes une affection génétique ou qui courent un plus grand risque d’avoir un enfant atteint d’une maladie génétique.</li><li>Le généticien est un médecin spécialisé qui enquête sur la cause d’une maladie génétique ou d’une anomalie congénitale.</li><li>Le médecin de votre enfant vous aiguillera vers l’équipe de génétique ou vers la clinique s’il pense qu’il est atteint d’une maladie à composante génétique.</li></ul>

 

 

Genetics team1594.00000000000Genetics teamGenetics teamGEnglishNAChild (0-12 years);Teen (13-18 years)NANAHealth care professionalsAdult (19+) CaregiversNA2009-12-04T05:00:00ZJennifer Russell, MD, FRCPC11.000000000000045.0000000000000862.000000000000Flat ContentHealth A-Z<p>Geneticists and genetic counsellors can provide information and support if a child has been diagnosed with a genetic condition or if the family is at high risk.</p><p> This page explains how members of the genetics team assess the risk of having a condition with a genetic component.</p><h2> Key points </h2><ul><li> Genetic counsellors assess and counsel individuals and families with a medical history of a genetic disorder, who themselves have a genetic disorder, or who may be at an increased risk of having a child with a genetic disorder.</li><li>A geneticist is a specialized medical doctor who investigates the cause of a genetic disorder or birth defect.</li><li>Your child's doctor will refer you to the genetics team or clinic if they think your child has a condition with a genetic component. </li></ul><h2>What is a genetic counsellor?</h2><p>Genetic counsellors are health professionals with specialized graduate degrees and experience in the areas of medical genetics and counselling. They assess and counsel individuals and families with a medical history of a genetic disorder, who themselves have a genetic disorder, or who may be at an increased risk of having a child with a genetic disorder. </p><p>Genetic counsellors provide information and supportive counselling, focus on ethical issues, coordinate testing (e.g. blood tests, amniocentesis), serve as patient advocates, and put families in touch with community resources such as support groups. Genetic counsellors are also involved in teaching and research. </p><h2>What is a geneticist?</h2><p>A geneticist is a medical doctor who has specialized in genetics. There are clinical geneticists and metabolic geneticists. Geneticists are part of the genetics team. They do investigations to determine the cause of a genetic disorder or birth defect. These involve doing a physical examination to identify signs and symptoms, or blood tests, both of which may be able to point to a diagnosis. </p><p>Once a diagnosis is made, the geneticist plays a role in setting the course for medical management. Geneticists can also help identify the risk of a genetic disorder in a family. </p><h2>Who benefits from genetic counselling?</h2><p>Genetic counselling is appropriate for people who are concerned about:</p><ul><li>a child with a genetic condition and/or birth defect </li><li>their own risks of having a genetic problem, or of having a child with a problem because of their medical family history or their ethnic background </li><li>pregnancy at 35 years of age or older </li><li>prenatal testing, such as amniocentesis, chorionic villi sampling, maternal serum screening, and ultrasound </li><li>exposure to potentially harmful substances during pregnancy </li></ul><h2>When would you meet the genetics team?</h2><p>Your child's doctor will refer you to the genetics team or clinic if they suspect your child has a condition with a genetic component. You could also meet a genetic counsellor or geneticist earlier, if your child is identified as having a genetic disorder through prenatal testing or newborn screening.</p><h3>What happens when you meet with the genetics team?</h3><p>If the doctor has expressed concern about your child having a genetic disorder, you will likely meet with a genetic counsellor at your hospital. The counsellor will discuss your family history, generally looking back about three generations, medical history and your child's developmental history with you. They will also look at how your child is doing generally. They will also discuss how the diagnosis might affect other family members. Everything you discuss with the genetic counsellor is completely confidential. </p><p>A geneticist will do a physical exam and, if possible, make a diagnosis based on clinical features. Sometimes families will be offered genetic testing and other investigations. This involves having you or your child give blood, which the geneticist sends to the lab for analysis to either rule out a condition or syndrome or pinpoint a diagnosis. </p><p>Sometimes the geneticist has an idea of what may be the source of a problem for a child, but sometimes years go by before a set of symptoms leads to a firm diagnosis. Generally, the investigation starts with the most obvious possible diagnoses and rules them out one by one. </p><p>Once a diagnosis has been made, your child may be referred to other specialists as necessary. These may include, for example, ophthalmologists or orthopaedic surgeons. </p><h3>Why is it helpful to meet with a genetic counsellor?</h3><p>The genetic counsellor is there to provide you with information and support. This is someone who can help you understand a condition or syndrome by giving you an overview and discussing the associated clinical features. </p><p>They can explain what geneticsis all about, as well as what happens in the body that results in a condition or syndrome. The genetic counsellor can also give you written material on the syndrome or prepare letters to help you inform others, like teachers at your child's school or other family members. </p><p>They can also answer questions about your child's condition, and give you an idea of what to expect as your child grows. They will not tell you what decisions to make about your child's care, but will help you be as informed as possible and know your options in terms of treatment. Knowing your child has a syndrome can be very difficult to accept. A genetic counsellor is someone to whom you can express your concerns. </p><p>Sometimes the counsellor will suggest testing for other family members if there is a suspicion that they have a mild form of a condition or syndrome that may not be obvious. For example, the father of a child with hypertrophic cardiomyopathymay have a milder, undiagnosed version of the cardiomyopathy and be at risk for illness. By being tested, the appropriate steps can be taken to ensure the father's health. </p><h3>What are some common questions?</h3><p>Some common questions parents ask include:</p><ul><li>How did this happen? </li><li>What will happen when my child gets older? </li><li>If we have more children, will they have this condition or syndrome too? </li></ul>Genetics team

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