Your First Genetics Appointment: What to Expect

Taking That First Step

If you've never seen a geneticist before, you might not know what to expect — and that's okay. Many people feel nervous about visiting a genetic specialist. They worry they'll be judged. They wonder if it's really necessary. They imagine complicated medical jargon and scary outcomes.

Here's what I want you to know: a genetics appointment is one of the gentlest, most collaborative conversations you'll have with a doctor. It's not a test you can fail. There's no pressure. It's simply a conversation between you and someone who wants to understand your story and help you make informed decisions about your health and your family's health.

Let me walk you through what's actually going to happen, so you can show up calm and ready.

Before Your Appointment — What to Gather

The best thing you can do to prepare is gather some information. This makes the appointment more productive and helps us get to the bottom of what matters for you.

Your Family History

This is the most important thing. Try to go back as far as you can — your parents, grandparents, aunts, uncles, and cousins. For each person, think about:

• Any health conditions they've had (especially major ones like cancer, heart disease, early dementia, or conditions similar to what you're concerned about)
• How old they were when diagnosed
• Whether they're still living

You don't need to know everything perfectly. Even if you remember vaguely that your grandmother had "something with the heart" or "some kind of cancer," that helps. We can piece things together in the appointment.

Your Medical Records

Gather any previous medical records, test results, imaging reports, or specialist letters you have. If you've seen a cardiologist, neurologist, or rheumatologist before, bring those notes. If you've had blood work or imaging done, bring the results — even if they were normal.

A Timeline of Your Symptoms

If you're coming because of specific symptoms or concerns, jot down:

• When your symptoms started
• How they've changed or progressed
• How they're affecting your daily life
• Whether anyone in your family has similar symptoms

Previous Genetic Testing

Have you had ancestry testing done, like 23andMe or AncestryDNA? Even though these aren't medical tests, let us know. If you've had any medical genetic testing before, bring those results too.

Your Questions

Write down your questions. Don't worry about them being silly — there are no silly questions in a genetics appointment. Some people want to know about disease risk, others about family implications, others about whether genetic testing makes sense for them. Bring them all.

What Happens During the Appointment

It Starts With Your Story

The first part of the appointment isn't a physical exam — it's a conversation. I want to hear from you. What brought you here? What are you worried about? What do you hope to understand or accomplish?

This is not a timed conversation where I'm waiting for you to finish so I can move on. I'm listening. Your story matters because genetics isn't just about genes — it's about how genes interact with your life, your environment, your symptoms, and your family.

The Detailed Family History

Next, we'll go through your family history together in detail. I might draw a pedigree — that's just a family tree with medical information. It looks like boxes and circles connected by lines. Don't worry if you don't remember every detail. We're building a picture together, and you might remember something as we talk that you didn't think of before.

I'm looking for patterns. Are there clusters of a certain disease? Did someone get sick unusually young? Is there a relative you're worried about? These details help me understand what might be inherited in your family.

The Physical Exam

Some genetic conditions have specific physical features that we look for. For example, if we're evaluating for Ehlers-Danlos syndrome, I might check your skin elasticity, your joint flexibility, or how your skin scars. If we're concerned about Marfan syndrome, I might measure your arm span or look at your eye features.

This doesn't hurt. It's not invasive. I'm just observing and sometimes gently checking how your joints move or how flexible your skin is. If you're uncomfortable with any part of the exam, just let me know — we can skip it or modify it.

The Testing Discussion

Based on everything we've talked about and what I've observed, we'll discuss whether genetic testing makes sense for you. Here's what this conversation looks like:

• Is testing appropriate? Not everyone needs genetic testing, and I'll explain why if you don't.
• What would we be testing for? I'll explain which genes we'd look at and why.
• What can it tell you? Some tests definitively diagnose a condition. Others tell you about risk or carrier status. I'll be honest about what we can and can't know.
• What about the timeline and cost? Most genetic tests take 2-4 weeks. I'll explain what your insurance might cover and what you might pay.
• What if we find something unexpected? We'll talk about what happens if results come back with something other than what we were looking for.

Your Questions Answered

We take time to answer whatever you want to know. You might ask about your own risk, your children's risk, whether other family members should get tested, what the results would mean for your future, or anything else on your mind. No question is off-limits.

How Virtual Appointments Work

Many of our patients choose virtual appointments, and they're just as thorough as in-person visits. You'll join a video call from your home, and we'll go through everything the same way.

What's Different on Video

The physical exam is modified slightly for a virtual visit. Rather than me examining you in person, I might ask you to demonstrate flexibility or show me certain features on camera. For example, if we're looking at skin features, you can show them to the camera. If we're checking joint flexibility, you might do a simple movement.

It's not quite the same as in-person, but it's surprisingly thorough and works well for most situations. If we feel like you really need an in-person exam, we can arrange that separately.

Test Kits at Home

If genetic testing is recommended, we'll have a kit sent to your home. It's usually a simple cheek swab or spit sample. We'll explain exactly how to collect it, and then you mail it back using a prepaid envelope. It's that simple.

The Appointment Timeline

Plan for your initial appointment to take about 60-90 minutes. Some appointments are shorter, some take a bit longer — it depends on how much we need to discuss. There's no rush.

After Your Appointment

Your Written Summary

Within a few days, you'll receive a written summary of what we discussed, what we found on exam, and what we recommended. This isn't just for you — copies go to your primary care doctor and any other doctors involved in your care, so everyone's on the same page.

Waiting for Genetic Test Results

If testing was ordered, results typically come back in 2-4 weeks. Sometimes they're faster, sometimes they take a bit longer — it depends on the complexity of the test and the lab's current workload. We'll let you know what to expect.

Waiting can feel anxious, and that's normal. During this time, nothing changes about your health. You're the same person you were before the test. We're just getting information to help guide future decisions.

Results Consultation

You'll never get a genetic test result as just a report in the mail or an email. Results always come with a conversation. We'll schedule a follow-up appointment to review what the results mean, what they mean for you specifically, what they might mean for your family, and what the next steps are.

If results are complex or unexpected, we take the time you need to process and understand them. If results are reassuring, we talk about what that means and how to move forward with that information.

Next Steps

After results, your next steps might include:

• Specialist referrals (to a cardiologist, neurologist, or other specialist)
• Recommendations for family members to get tested
• Surveillance or monitoring plans
• Lifestyle or medical recommendations based on your results
• Follow-up with us as new information becomes available

How Long Does Everything Take?

Here's a realistic timeline:

• Initial appointment: 60-90 minutes
• Genetic testing (if ordered): 2-4 weeks for results
• Results appointment: 30-60 minutes

From start to finish, the whole process usually takes about a month if genetic testing is ordered. If we're not recommending testing, you have your answers and recommendations after that first appointment.

You Don't Need a Referral

Here's something important to know: you don't need a referral from your primary care doctor to see a geneticist. You can book an appointment directly. Many patients do.

That said, it's nice to let your primary care doctor know that you're seeing us. We communicate with them about our findings, so they're always in the loop.

Available in All 50 States

We offer virtual genetics appointments throughout the United States. Whether you're in California, New York, Texas, or anywhere in between, you can see us from home. This is one of the benefits of telehealth — you get expert genetic care without traveling.

Dr. Sigireddi's Background

I'm Dr. Meenakshi Sigireddi, and I'm double board-certified in Clinical Genetics & Genomics and Internal Medicine. I direct the High Risk Cancer Genetics Program at NYU Langone's Perlmutter Cancer Center, and I founded Precision Medical Genetics to give patients faster, more personal access to expert genetic evaluations. Beyond credentials, I'm committed to explaining things clearly, answering your questions thoroughly, and making you feel heard and supported. That's what genetics appointments should feel like.

A Final Word

I know that coming to see a geneticist might feel like stepping into unfamiliar territory. But I hope this has helped you feel less anxious about what's coming. A genetics appointment is a conversation with someone who cares about understanding your health and supporting you and your family.

You're not alone in this. We've walked hundreds of people through this same process, and we'll walk you through it with care, patience, and clarity.

Any questions before your appointment? Bring them. Any concerns? Share them. That's what we're here for.