Genetic Counseling and Testing

Empowering Families with Knowledge and Choices through Genetic Counseling and Testing

The Importance of Genetic Counseling and Testing

Genetic counseling and testing play a critical role in understanding and managing inherited conditions, offering valuable insights into genetic disorders’ risks, diagnoses, and implications. These services enable families to make informed decisions about their health and future, which can lead to better management and improved outcomes for individuals with genetic conditions. Genetic counselors are trained healthcare professionals who provide personalized support and information, helping families navigate complex genetic information and make informed choices regarding their health.

Types and Benefits of Genetic Testing

Genetic testing analyzes DNA to identify changes or mutations that may cause genetic disorders. Various types of genetic tests include diagnostic testing to confirm specific genetic conditions, carrier screening for gene mutations for recessive disorders, prenatal testing to detect genetic abnormalities during pregnancy, newborn screening shortly after birth, and predictive testing to assess future risk of genetic disorders. The genetic testing process involves pre-test counseling, sample collection, laboratory analysis, results interpretation, and post-test counseling to ensure individuals understand the significance of their results and any recommended steps. These services offer numerous benefits, such as early detection, informed decision-making, personalized care, and preventive measures.

Who Should Consider Genetic Counseling

Genetic counseling and testing can be valuable for many families, offering guidance and clarity in complex situations. It’s especially beneficial for those with a family history of genetic disorders, couples planning to start a family, pregnant women, or individuals experiencing unexplained health symptoms. During the process, ethical and emotional considerations are carefully addressed, including privacy, confidentiality, informed consent, and the emotional impact of the results. Genetic counseling helps families understand their risks and options, allowing them to make informed and empowered decisions about their health and future. This support offers both clarity and hope for those managing or facing the possibility of genetic conditions.

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Articles about Genetic Counseling and Testing

  • Genetic Counseling & Testing
    Types of Genetic Tests for Developmental and Genetic Disorders in Children 

    Types of Genetic Tests for Developmental and Genetic Disorders in Children 

    There may be many obstacles along the way, including: Lack of access to the right medical attention, specialists, and care. Lack of access to the right information about the possible genetic syndrome or rare disease the family faces. The possibility of misdiagnosis. Being stranded in a diagnostic journey, unsure of where and how to access the right information or medical specialists and testing to reach a diagnosis. Lack of support as the family navigates a new reality and future.

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  • Genetic Counseling & Testing

    Genetic Counseling for Neurological Developmental Delays

    There may be many obstacles along the way, including: Lack of access to the right medical attention, specialists, and care. Lack of access to the right information about the possible genetic syndrome or rare disease the family faces. The possibility of misdiagnosis. Being stranded in a diagnostic journey, unsure of where and how to access the right information or medical specialists and testing to reach a diagnosis. Lack of support as the family navigates a new reality and future.

    Read more
  • Genetic Counseling & Testing
    questions to ask a genetic counselor

    Questions to ask a Genetic Counselor

    Genetic counselors are highly trained and qualified individuals who are able to provide very high quality support and genetic services for rare disease patients and their families. Knowing the right questions to ask, and preparing them beforehand, can help you and your genetic counselor work together to ensure the most accurate diagnosis possible.

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  • Genetic Counseling & Testing
    5 things a genetic counselor does

    5 Things a Genetic Counselor Does for a Family

    A genetic counselor is a medical professional, with extensive genetic expertise, who is able to support and help families facing a rare disease diagnosis. Genetic counselors provide a mixture of services and support, from emotional support, to medical knowledge, to recommendations for specific genetic tests.

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  • Genetic Counseling & Testing

    The Advantages of Genetic Testing

    Genetic testing involves the screening of an individual’s DNA and genetic information, in order to learn more about their genetic health.  Genetic testing may – Identify if an individual is a carrier for a genetic or chromosomal mutation or change

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  • Genetic Counseling & Testing
    why would a doctor order genetic testing

    Why Would a Doctor Order Genetic Testing?

    Genetic testing is a process that usually involves sampling an individual’s DNA, including their genetic and chromosomal information, in order to understand if they are the carrier of a genetic mutation that might cause a rare disease in themselves or their children. It can also identify if someone is at risk of developing a rare disease due to an identified gene mutation or change, or if someone actually has a rare disease or genetic syndrome.

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  • Genetic Counseling & Testing
    virtual genetic counseling

    Virtual Genetic Counseling

    Virtual genetic counseling provides all of the essential services of in-person genetic counseling, it simply moves them online. This means that genetic counselors and patients can connect via any connected device, with video capabilities.

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  • Genetic Counseling & Testing
    preconception genetic testing

    A Guide to Preconception Genetic Testing: What Prospective Parents Should Know

    Preconception genetic testing is testing which takes place before a couple decides to conceive. There are two main types of preconception genetic testing- carrier screening and preimplantation screening.  The aim of the carrier testing is to understand more about the genetic health of the parents, and what this might mean for the health of their children-to-be in the context of rare diseases.

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