Solving life’s puzzles one DNA strand at a time

Before heading off to a demanding job, Professor Amanda Krause likes to lightly tease her brain over breakfast. As often as she can, she takes a quiet moment at the start of the day to sip her coffee and complete a crossword puzzle. Her aptitude for problem-solving is perfectly suited to her profession as a medical geneticist; she’s one of around just 20 medical doctors in the country who specialise in genetics.

Medical detective: When she’s not busy unravelling the mysteries of molecular genetics, Professor Krause enjoys reading historical novels, thrillers and crime fiction.

Listen to Prof. Krause share fascinating insights into genetic links to cancer, dispelling many common cancer myths, here.

Prof. Krause’s profession requires training in general medicine, genetic diagnosis, and the treatment of patients with genetic disorders. Medical geneticists use molecular genetics, cytogenetics, and biochemical tests to diagnose patients in a comprehensive molecular and clinical approach. We caught up with her to hear what her job entails.

Q: How did you get into your field?

It all started with a high school biology teacher who brought out my love of genetics. After school, I applied to study medicine at WITS University because I liked biology and working with people. At the end of my second year, there was an opportunity to leave medicine and get a BSc degree, which I did to pursue a course in genetics.

I then realised I wanted to do the medical side as well as the research side, so I went back to finish my medical degree while simultaneously doing a PHD in genetics. It took 14 years in total to complete all my studies, and I got married and had two daughters along the way!

Sounds ambitious?

Well, I was a very hardworking student. When I compare how hard I worked to how hard my children work, I realise just how much I gave! (laughs). But it was never at a cost – I was driven to do well simply because I got satisfaction from doing so.

What does your job entail?

I run a department with a staff and student complement of about 100. We also run a genetic laboratory and clinical service, so we see patients with genetic conditions, run tests and advise them. We also teach genetics to under- and post-grads, to medical students mainly. Then there’s research, recruiting, applying for grants, an enormous amount of admin, and dealing with people. It’s challenging, and at times overwhelming, but it comes with the territory.

What making studying genetics in South Africa so interesting?

South Africa is the perfect place to study genetics because it is a melting pot of ethnicities. Most studies have been done on European populations, and you can’t necessarily just translate tests developed elsewhere and use them locally, because they’re often not applicable. African genetics are different, and it’s important to try understand the implications, as these can severely impact the health of people.

Even though I've been in this field for many years, I keep seeing things I’ve never seen before. I suppose that's true of medicine in general. But one of the things I enjoy about genetics is that you never feel like you've seen 50 patients with the same condition, one after the other. Each patient has their own individual challenges, and it's very stimulating from an academic point of view.

How can genetic testing help people?

Medical genetics can help identify risks and minimise them or prolong life through early management. It’s all about providing accurate information, raising the negatives and positives, and talking through the “what if?” scenarios.

Many people come in saying. “I just want to check this, so I know I'm negative,” but they haven't actually thought through what happens if they are positive. We’re trained to convey medical problems in a balanced way and explore the issues sufficiently with people, so they feel that they are making an informed decision.

Is this why it’s important to learn your family’s medical history?

Yes, knowing your medical history can help pre-empt certain problems. If there is a significant family history, you shouldn’t bury your head in the sand. Hiding or ignoring risks won’t make them go away.

A baby can be born with a condition, despite no family history; that doesn't mean it's not genetic, and it doesn't mean it's not going to happen again because no one else in the family had it. There are also many genetic conditions that occur where there is no obvious family history.

How do patients get in touch with you?

If a treating doctor suspects a genetic condition, they can refer a patient to us to confirm the diagnosis. We do this through clinical examination and a series of special investigations. Patients can also approach us directly.

What do you most enjoy about your job?

I enjoy understanding results at a lab level, especially when they're not the norm, and we have to work out what's going on so that we can offer meaningful feedback to the patient, and prevent genetic issues occurring in future children. Helping people with genetic conditions to have healthy families is what keeps us going.