Mitochondrial disorders counselors are genetic counselors who specialize in helping people and families understand and come to terms with mitochondrial disease diagnosis. There are no cures for these conditions, and diagnosing and treating them can be challenging. That makes what these counselors do especially important.
Mitochondrial disease isn’t one condition, but many. What these diseases share in common is that they are all associated with mutations in mitochondria, the subcellular organelle responsible for cellular energy production, respiration, and metabolism. Mitochondria are sometimes referred to as “the powerhouses of the cell.”
Some mitochondrial syndromes have well-documented symptoms and an established road map for treatment. Others, however, manifest differently in different patients, which can make them difficult to diagnose and treat. Some mitochondrial diseases share symptoms with other, more common conditions (such as autism, diabetes, or Parkinson’s Disease). This, too, makes mitochondrial diseases easy to misdiagnose.
Complicating matters further still is the fact that these diseases are rare. With fewer than 20,000 cases identified each year in the US, some doctors may not even consider the possibility of mitochondrial disease before every other possible issue is ruled out.
As a result, patients often undergo not only regular examinations and blood tests, but also genetic tests like whole exome sequencing, spinal taps, and muscle biopsies before receiving a conclusive diagnosis. The ordeal of diagnosing a mitochondrial disease can be as challenging as the disease itself.
Many years may go by before patients and families are informed that a mitochondrial abnormality may be the cause of their symptoms. At that point, they will likely be referred to a mitochondrial disorders counselor, who will explain the diagnostic process, the nature of mitochondrial diseases, the impact of having one, and any available intervention options. Sometimes a diagnosis can lead to more uncertainty, not less; there are no treatment guidelines for some types of mitochondrial disease. Mitochondrial disorders counselors sometimes must help patients who don’t have any way to know what the future holds.
In this article about how to become a mitochondrial disorders counselor, we’ll cover:
Mitochondrial disorders (also called diseases or syndromes) are actually 40 different conditions caused by mutations in mitochondrial or nuclear DNA. These mutations cause the mitochondria found in many cells to fail, which results in cells getting too little energy and, eventually, dying. Depending on where in the body these cells are located (brain, skeleton, digestive system, etc.), the impact of mitochondrial failure can be anywhere from mild to severe.
Mitochondrial diseases manifest in many ways. They vary in severity, symptoms, the bodily systems affected, and the age of onset. This is true even when disorders are caused by the same mitochondrial mutations.
Mitochondrial diseases are found mainly in children, but some patients are diagnosed in adulthood. No cure exists for any known mitochondrial disorder, and fewer than half of them even have an identified genetic cause.
Treatment options for mitochondrial diseases are supportive. They may involve everything from taking vitamins to eating a low-carb, high-fat diet. Some disorders are fatal; others cause learning disabilities, developmental delays, or growth disorders. No specific therapies have been found that can totally halt the progression of any known disorder.
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Mitochondrial disorders counselors are genetic counselors who work in hospitals, genetic testing facilities, and mitochondrial medicine departments to support and educate patients dealing with the possibility of a mitochondrial disorder diagnosis or a confirmed diagnosis. They may also work with patients who are carriers of nuclear DNA mutations and want to have children without passing on those mutations.
Genetic testing helps mitochondrial disorders counselors identify disease associated with mitochondria malfunctions, but family histories can be equally important. That’s because inheritance patterns can help genetic counselors determine when a condition has been passed from generation to generation through the maternal line. Sometimes, it’s family history information that prompts a counselor to order one or more of the tests that are used to confirm a mitochondrial disease diagnosis.
You may specialize in mitochondrial mutations when you become a mitochondrial disorders counselor, but your day-to-day duties will be similar to those of all genetic counselors. You’ll spend your days:
What will be different is that your patients will probably never have a clear prognosis. Though some mitochondrial syndromes are always fatal, many mitochondrial disorders manifest in unpredictable ways. Being able to convey the complexity of mitochondrial disorders in simple language and support patients through uncertainty is an essential part of the job.
Before you can become a mitochondrial disorders counselor, you need to earn a bachelor’s degree. You can major in a subject like biology, chemistry, social work, psychology, or a healthcare discipline if you want to leave your options open, or go all-in with a Bachelor of Science in Cellular and Molecular Biology or a Bachelor of Science in Genetics.
You will eventually need to have a master’s degree to become a genetic counselor, so it’s a good idea to pursue internships in a clinical healthcare setting during your undergraduate years. You should also take any electives focused on genetics and biochemistry offered by your university, regardless of your chosen major. If your school offers advisement, internships, or courses specifically for aspiring genetic counselors, take advantage of them.
After graduating with your bachelor’s degree, you can go straight into a Master of Science in Genetic Counseling program. When you’re choosing a master’s degree program, make sure you choose one that is accredited by the American Board of Genetic Counselors (ABGC).
Getting into these programs is tough because many only accept a handful of students each year. Unfortunately, there are no specialized Master of Science in Genetic Counseling programs specifically for mitochondrial disorders counselors. Many master’s degree programs for genetic counselors let students take elective courses related to certain areas of professional focus, however, and all accredited programs prepare students to become well-rounded genetic counselors capable of working with many types of patients.
After earning your master’s degree, you will have to apply for a license to work in your state. The licensure requirements for genetic counselors vary from state to state, though all mitochondrial disorders counselors must complete an ABGC-accredited graduate program. Most states require genetic counselors to take and pass a written exam, and some require that counselors be ABGC-certified.
There are no specialty certifications for mitochondrial disorder counselors. The National Society of Genetic Counselors (NSGC) sometimes offers continuing education courses and seminars focused on the testing, diagnosis, and treatment of mitochondrial disorders.
As genetic testing technology grows increasingly sophisticated, more mitochondrial disorders are being diagnosed. Right now, the most common specialty areas in genetic counseling are prenatal genetic counseling, cancer genetic counseling, and pediatric genetic counseling. However, this may shift as new screening tests are developed, and existing screening tests become more accurate or less costly.
The US Bureau of Labor Statistics predicts that jobs in all areas of genetic counseling will grow much more quickly than jobs in other fields (at a 27 percent rate between 2018 and 2028, more than five times the rate for the job market as a whole). You’ll probably earn over $80,000 per year (or more if you advance to senior genetic counselor or a department director).
That depends on how well you can tolerate giving people bad news. Most patients who are referred to genetic counselors are either dealing with the possibility of a difficult diagnosis or have just received one. Because mitochondrial disorders are typically diagnosed in children, this job often involves working closely with distraught parents. Many of your counseling sessions will be emotionally draining or heartbreaking. If you can’t compartmentalize, you will quickly succumb to burnout.
This job isn’t all doom and gloom, however. While mitochondrial diseases are genetically complex, unpredictable, and can present diagnostic and clinical challenges seldom found in other disorders, molecular technologies are evolving rapidly. It may not be long before science can identify which genes are contributing to the most common mitochondrial malfunctions. Identifying these may lead to new methods of treatment and new hope for mitochondrial disorder patients. When you become a mitochondrial disorders counselor, you’ll be able to use new technologies as they are developed to help your patients.
Until then, you’ll be able to support individuals with suspected or confirmed mitochondrial disease by helping them understand why they are sick, what they can do to mitigate the impact of mitochondrial mutations, and what treatment options are on the horizon. While it may be doctors who will devise care plans for your patients, you will probably do more to ease the frustration and fear they’ll be feeling after they’re given this type of complicated diagnosis.
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