Have you ever heard of a geneticist? You might be wondering, "Who is this?" "What do they do?" Don't worry, today we'll talk about who these geneticists are and how important they are to our health in a simple, easy-to-understand way. It's like talking to a friend.
Who is this geneticist?
Simply put, a geneticist is a doctor who specializes in the relationship between our genes and our health. Think of it this way: our genes are a series of tiny instructions inside our bodies. These genes determine not only our height and color, but also our susceptibility to certain diseases.
These geneticists, especially clinical geneticists, help identify and manage genetic disorders that affect people of all ages, from pregnancy onwards. Some geneticists also conduct research on genetic diseases and make new discoveries. Some are also involved in administrative work or in teaching other doctors and students.
Why do you want to meet a geneticist?
There are many reasons why you might want to see a geneticist. Let's look at some of them.
If you are diagnosed with a genetic disorder...
Your doctor may refer you to a geneticist if they suspect you have a genetic condition. This means that there are changes, or mutations, in your genes. These genetic mutations can be present at birth or develop later in life.
A geneticist can help you identify the genetic factors that contribute to this condition, explain how it may affect your children or other family members, and provide recommendations to your medical team to help you stay as healthy as possible with the genetic condition.
If someone in your family has a hereditary disease...
Imagine that someone in your family has a genetic disease, such as cancer. Your doctor may refer you to a geneticist. A geneticist can assess your risk of developing the disease and help you develop a plan to deal with it. For example, they may recommend screenings to help detect signs of cancer as early as possible. They may also suggest genetic testing to learn more about your risk.
If your child has a genetic condition...
Geneticists treat both adults and children. Some specialize in children. If your child has been diagnosed with a birth defect or a condition such as autism, you may need to see a geneticist. A geneticist can help you and your family understand your child's diagnosis, treatment options, and prognosis.
Important: It's common for parents to be shocked when they learn that their child has a genetic condition. But with the help of a geneticist, you can understand the condition and provide the best care for your child.
If you are planning to start a family, or are pregnant...
When you are planning a family, your obstetrician or midwife may refer you to a geneticist. This is especially important if you have a genetic condition or are over 35. A geneticist can help determine the risk of your baby inheriting a genetic condition or being born with a condition such as Down syndrome.
You may also meet with a geneticist during your pregnancy to discuss the results of prenatal tests or other concerns.
If you have a rare disease...
Geneticists diagnose and manage both common and rare genetic conditions. Some conditions are very rare. In those cases, a geneticist may be the only person who knows the disease well and can help you.
Who is a clinical geneticist?
The term ``Clinical geneticist`` refers to a geneticist who sees patients. They have a medical degree (``(MD - Doctor of Medicine)`` or ``(DO - Doctor of Osteopathic Medicine)``).
Most geneticists are considered clinical geneticists. However, some geneticists work primarily in laboratories, not in patient care. They may have a medical degree, a doctorate (PhD - Doctor of Philosophy), or both. They are usually called geneticists or medical geneticists, not clinical geneticists.
Where do geneticists work?
Most geneticists work in major hospitals and medical centers. Some work in private or group practices. A very small number work exclusively in commercial laboratories.
Geneticists usually meet with you in person, but many also offer virtual appointments (telehealth). This is especially important for people in areas where there are few or no geneticists.
Because most geneticists work in or near large cities, many people do not have easy access to a geneticist. If you want to see a geneticist but there is no one in your area, ask your doctor about it.
What does a geneticist do?
A typical work week for a clinical geneticist might include:
- Detailed physical examinations are performed.
- Talking to people about their family history and symptoms.
- Genetic testing is planned and directed.
- Test results are discussed with individuals and their families.
- When someone has to be given a difficult diagnosis, we support that person and their family with kindness and compassion.
- We coordinate treatment with other healthcare providers.
- Recommends treatments or strategies to manage a medical condition.
- I update my knowledge by reading newly published articles on medical genetics.
- I do both administrative work and teaching.
- Conducting research and writing articles for publication.
Not all geneticists see patients directly. Some work behind the scenes in labs, like this:
- Testing for genetic diseases is being conducted.
- Analyzing the test results.
- Creating detailed reports for healthcare providers.
What is the difference between a geneticist and a genetic counselor?
Geneticists and genetic counselors are both experts in genetics, but there are differences in their training:
- Geneticists are doctors. They go to medical school and specialize in genetics.
- Genetic counselors are trained professionals. They earn a master's degree in genetic counseling. They also take an exam to become a Certified Genetic Counselor (CGC®). Although they can perform many of the tasks listed above, they cannot perform physical exams or develop medical management plans that have not already been published.
Geneticists and genetic counselors work as a team. These teams may include genetics nurses, dietitians, and pharmacogenomics specialists. Geneticists also work with primary care physicians (PCPs) and other specialists, such as neurologists or oncologists, to diagnose and manage diseases.
How do you become a geneticist?
To become a geneticist, you need to get a higher education – either go to medical school and get a medical degree (`(MD)` or `(DO)`), or go to graduate school and get a doctorate degree (`(PhD)`). Here are the basic steps that most geneticists follow:
- First, you need to get a bachelor's degree.
- You need to go to medical school and get a degree, either ``(MD)`` or ``(DO)``.
- You must complete a medical residency (for example, in internal medicine or pediatrics), and then complete a fellowship in genetics or a combined residency, such as pediatrics/genetics.
- To obtain board certification from an institution such as the American Board of Medical Genetics and Genomics (ABMGG), one must sit for an examination. (In Sri Lanka, one must obtain a qualification such as MD (Genetics) from the relevant postgraduate institution and register as a specialist physician.)
If you prefer to do research or work in a lab rather than see patients, you may choose to pursue a ``PhD'' instead of a medical degree. Some people pursue a dual degree (``MD/PhD''). The exact path you choose will depend on your interests and career goals. It's a good idea to visit the educational institutions you're considering and talk to professors and students there to learn more about your options.
Who is a pediatric geneticist?
A pediatric geneticist is someone who diagnoses and treats genetic conditions in babies and young children. They also provide education and support to families. For example:
- I will explain your child's condition in a way that you can understand.
- The test results will be explained to you.
- This explains the possibility that this genetic condition could affect other family members or future pregnancies.
You may need to work with a pediatric geneticist if your child is born with one of these conditions:
- Congenital heart disease (`(Congenital heart disease)`).
- A genetic syndrome that affects a child's chromosomes, such as Down syndrome.
- An inherited disorder, like cystic fibrosis or sickle cell disease.
Pediatric geneticists complete residency training in both pediatrics and medical genetics. They are often board certified in both fields.
Finally, the most important thing
When you first meet with a geneticist, you may feel a little nervous and scared. That's normal. But remember, geneticists meet with individuals and families all the time. They really want to help you understand what's going on inside your body, or the body of someone you love. They may have good news for you, or they may have some hard news for you to hear. However, geneticists are ready to support you every step of the way with knowledge, resources, and compassion.
So, I hope you now have a good idea of who a geneticist is and what they do. I hope you find this information useful!
` Genetics, geneticist, genetic diseases, heredity, genetic testing, medical consultation, health
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