When Does Clinical Genetic Counseling Start and End During Testing?
In fact, this concept begins from the very first minute—while deciding on the tests for the patient. It’s often described as "before and after the test," but sometimes we don’t even need to do a test; counseling alone solves the problem. So, genetic counseling is involved right from the beginning. That’s how we decide which tests to perform. Counseling is a broad concept—it requires understanding what the individual feels. Sometimes we shouldn’t even start a test, or sometimes we must proceed urgently or delay certain steps. To comprehend all this, we need to be involved from the start. Then we plan the test, explain it, ensure the patient understands, carry it out, and explain the results again. We also accompany the patient for years afterward. I tell patients, “Genetic counseling is like the process of us becoming relatives.”
How Is Counseling Provided in Dominant Disorders? Are These Two Concepts Different?
For us, there’s not much of a difference. The most important aspect of counseling is making sure the individual fully understands and internalizes the issue. Our diseases are chronic, so patients must understand every aspect. I always say: entering a tunnel of fear—whether it’s a dragon or a chick that appears—you’re afraid. But if you know what’s coming, even a real dragon won’t be as frightening. That’s why we explain in detail what will come next, page by page. Our patients’ biggest fear is the unknown future. We help them know it, benefit from previous patients’ experiences, and even promote our patients to genetic counselors later on. We connect them with each other for peer guidance because life at home brings experiences that even doctors don’t know. First, we become genetic counselors, then our patients do.
How Does Genetic Counseling Work in Cancer Cases?
We usually get involved at the time of initial cancer diagnosis. Sometimes, everything has already been done—pathology and genetic lab results are available. But when things become complicated, we step in. We do the same: we plan tests and explain what will come next, step by step, to avoid surprises. That’s our main role. We also serve as technical directors—referring patients to social, psychological, and other counselors, and communicating with doctors. When clinical colleagues are overwhelmed, we take the information they provide and explain it to the patient calmly. We meet multiple times. Our in-house trained team members provide long-term conversations. So, it’s a system where the patient can consult every step of the way.
How Do You Counsel Families with High-Risk Pregnancies or Recurrent Pregnancy Loss?
Here, our medical role is key—we need to establish a diagnosis. We start by explaining how we’ll do that. Once diagnosed, we go over treatments and who will provide them, step by step. If we have treatment recommendations, we provide those as well. Geneticists often have a unique perspective. For us, pregnancy loss is just a symptom—a sign of many possible diseases that may affect the individual’s future. It's not just “come today, get tested, have your baby and move on.” We address lifelong effects—on the individual, the household, and the family. One important point: genetic counseling isn’t just for the patient. It’s also for family members, those living in the home, doctors, treatment supporters—and even for those who obstruct treatment. We work to prevent obstruction. Sometimes, we make a recommendation, but a family elder won’t approve the treatment. In such cases, our work becomes ineffective. That too is part of the treatment process.
How Do You Follow Up and Provide Counseling for Suspicious Results in Prenatal Screening (Double/Triple Tests)?
Pregnancy is a joyful but stressful period. The slightest issue can be approached very differently. It begins as a journey toward happiness—a baby, happy times. Any problem causes huge stress. So, stress management is vital. We explain what these tests can reveal. Double/triple tests are not very strong. When we detect an abnormality, we’re not saying the baby definitely has Down syndrome or another disease—only a 2–4% chance. Recently I saw a Twitter group titled “Parents told their baby had Down syndrome but were born normal.” We speak in probabilities and risks, but people think we’re declaring certainty. If a test turns out normal, they say “but you said otherwise.” But that’s not what we said. We need to educate the public on what “risk” and “probability” mean. I illustrate it like this: imagine 100 people, 4 in red shirts, 96 in white. The red ones have affected babies, the rest don’t. That’s the risk. Likely everything is fine, but there’s a small chance something is wrong. Once they understand that, they can join us in the process. Another point: some families say, “Even if my child is ill, I’ll still give birth.” In those cases, we don’t push for amniocentesis. But sometimes we say, “We must know this condition now—not to terminate—but to prepare at birth.” A major danger on social media is misinformation. Misinformed patients may think every discussion is about abortion, when that’s not the case.
How Is Fetal Examination Performed? Do You Perform It at Your Center?
Unfortunately, very few centers and professionals perform this. And that’s unfortunate because when a fetus dies in utero or when pregnancy is terminated due to a physical/genetic issue, a fetal exam gives a diagnosis in nearly 60% of cases. It’s simple for a geneticist—an exam, a few X-rays, and photos. This isn’t an autopsy. Autopsy is different—it involves examining internal organs and taking biopsies, with special family consent. When families bring the fetus for examination, they often fear we’ll dissect or mutilate it. That’s not true. Even autopsy is done gently, respectfully, like surgery. Samples are taken, and a diagnosis is made. Why is this important? Because sometimes it saves another family member’s life. Or the next pregnancy. And the biggest grief is from not knowing. The baby dies and families blame themselves, the doctor, the nurse—anyone. In our culture, we look for someone to blame. Families feel incomplete if they can’t assign responsibility. As geneticists, we use this exam and further evaluation to show no one is at fault—and to identify what to do next to prevent recurrence.
Should Genetic Counseling Be Provided Even If No Disease Is Known or Suspected? Should Everyone Visit a Genetic Center?
The key question here: Do you have DNA? If yes, you likely have genetic diseases. I say this a lot—people think I’m exaggerating. But I’d bet coffee on this with anyone. We all have genetic conditions—some mild, some severe. Here’s a number: 60% of the population suffers chronic disease due to multifactorial conditions like diabetes, cardiovascular issues, or hypertension. Does anyone NOT know someone with high blood pressure? These people should all get counseling. Our ideal world is heading toward widespread genetic screening in the womb or at birth—no surprises. We can prevent or treat early, avoiding hospitalizations. If treated in time, people won’t need lifelong care. Doctors’ jobs are to return things to normal. That’s why screenings and follow-ups are crucial. In fact, we should see genetic counseling like psychological counseling—everyone should stop by at least once in their lives.