Genetic Testing: Parents Face Many Choices

A Brief Overview

  • More than 1,000 genetic tests are available. Whether to test is voluntary, and families can consider how the testing might impact social and emotional well-being.
  • Genetic testing is available at various ages and stages through the lifespan. Read on for information about options from pre-birth through adulthood.
  • A directory from the National Society of Genetic Counselors provides a place to seek information and support.
  • The Genetic Information Nondiscrimination Act (GINA) protects individuals from genetic discrimination. The National Human Genome Research Institute, (NHGRI) provides information about GINA.

Full Article

Genetic testing can provide information about changes in chromosomes, genes, or proteins that might impact a person’s health, development, or ability to respond to certain medical treatments. Testing is available from pre-birth throughout the lifespan.

A genetic test can confirm or rule out a suspected genetic condition or determine whether someone might develop a medical condition or pass on a genetic disorder to a child. More than 1,000 genetic tests are currently in use, and more are being developed.

Testing is voluntary and personal. Families can discuss with providers whether information found through testing might help with choice-making or whether the testing might cause stress. A geneticist or genetic counselor can provide guidance about the pros and cons of the test and discuss the social and emotional aspects of testing.

According to the National Institutes of Health (NIH), the three common methods for genetic testing include:

  • Molecular tests, which look for markers that might identify small variations or mutations in the structure of a person’s cells.
  • Chromosomal tests, which analyze whole chromosomes to see if large genetic changes, such as an extra copy of a chromosome, may cause a genetic condition.
  • Biochemical tests, which analyze proteins to determine any abnormalities that might indicate a genetic disorder.

Genetic testing often involves a small blood sample or a cheek-swab that is sent to a medical lab for analysis. A medical provider or genetic counselor usually shares and interprets the results. Patients also can ask for lab results to be mailed directly to the home.

When deciding about genetic testing, families generally start with a reason to wonder if there might be a problem. A child may have a medical diagnosis, or someone else in the family may have suffered from a condition related to a genetic abnormality. Regardless of the reason, families may face choices at various ages and stages of the development. Here are a few examples of genetic tests that parents may consider:

Preimplantation Genetic Diagnosis (PGD)

PGD is provided when a mother chooses to become pregnant through a process of in-vitro fertilization, when the egg and sperm are introduced outside the woman’s body. The resulting embryo can be tested to ensure that only embryos free of genetic disorders are implanted into the woman’s womb.

Prenatal Testing

Genetic testing on the baby can be done inside the mother’s womb. Amniotic fluid or tissue is collected from the fetus. Because the tests introduce a potential for miscarriage, mothers often discuss risks and reasons for wanting the information before choosing.

Newborn Screening

The most common type of genetic testing is newborn screening. Typically, a baby’s heel is pricked within a day or two after birth. The blood sample can reveal genetic disorders that might be treatable early in life. Follow-up testing is sometimes needed for development of a care plan.

Diagnostic Testing

When a person is ill and doctors struggle to determine the cause, genetic testing can sometimes assist with diagnosis. Genetic information may impact the course of ongoing treatment.

Presymptomatic Testing

If a family member has been diagnosed with a genetic disorder, other relatives may wish to be tested to identify any risk. For example, certain genetic markers indicate a tendency toward a specific cancer or heart condition. Finding a gene that increases the chances of developing a disease may help patients make medical or lifestyle decisions.

Carrier Testing

Certain families or ethnic groups carry genetic markers for specific impairments. If both parents carry a marker, they may pass it on to their children. Knowing this through testing can inform parenting decisions.

Pharmacogenomic Testing

Genetic markers can provide information about how certain medications are metabolized. Knowing how a person might respond to medications removes some of the guesswork. Genetic testing is increasingly common for individuals with mental health diagnoses.

Research Genetic Testing

By studying how genetics impact health and development, researchers expand knowledge about what can happen and how the medical field might respond.

What are the costs?

Basic genetic testing can cost $100-$2,000. A more complex diagnosis can cost more. Whether insurance pays may depend on whether the test is being recommended by a provider. Most policies cover newborn testing.

Test results may arrive in a few weeks or take several months. Prenatal tests generally are completed more quickly. A genetic counselor or medical provider can provide more precise detail about expected costs and timing.

Some people worry that genetic testing could impact healthcare coverage. The Genetic Information Nondiscrimination Act (GINA) intends to protect individuals from genetic discrimination. The National Human Genome Research Institute, (NHGRI) provides information about this law.

According to the Institute, “Many Americans fear that participating in research or undergoing genetic testing will lead to being discriminated against based on their genetics. Such fears may dissuade patients from taking genomics-based clinical tests or volunteering to participate in the research necessary for the development of new tests, therapies, and cures. To address this, in 2008 the Genetic Information Nondiscrimination Act (GINA) was passed into law, prohibiting discrimination by employers and health insurers.”

Emotional costs of genetic testing can be complex. Finding out the results of a genetic test can cause anxiety, anger, guilt, or depression. A genetic counselor can help with decision-making. A directory from the National Society of Genetic Counselors provides a resource for finding support.



A Mother Shares her Personal Journey of Welcoming a Baby with Down Syndrome

By Elizabeth Paschich

The news that my son had Down syndrome came at a bad time.  I was pregnant with our 6th child, and my husband and I were not on the same page about my pregnancy. Age 37, I qualified for extensive genetic testing that could identify the gender of my child at 11 weeks. I wanted to know—and to start planning for our new family member. I didn’t know the results would begin a different kind of preparation.

I got the news while visiting my younger sister in the hospital after she gave birth to her first baby, a girl. My doctor asked if it was a good time to call, and of course I said yes. He then told me that the test showed that my child had Down syndrome. He said he would refer me to Maternal Fetal Medicine for an ultrasound. He told me to store his number and to call any time with questions. Then he asked if I wanted to know my child’s gender and I said, “Oh, yes, yes I do.” He told me I was having a boy. I felt a tug in my chest; this was my first boy. I thanked him for his call and hung up.

There I was, in my sister’s hospital room, trying to figure out what to feel when I realized everyone was waiting for the news. I shook off any emotions and told them, “They think my baby has Down syndrome… but it’s a Boy!” No one knew what to say. I sat for a minute, my eyes fixed on that sweet baby girl. My other children were with me, and the youngest ones were so excited to know they were getting a baby brother. My oldest daughter asked a few questions and sat quietly with me on the ride home.

I felt completely alone. I didn’t call my husband because I felt like he wouldn’t say anything I needed to hear. I just wanted someone to tell me that everything was going to be okay. That night I shared the news with him, and this began an intense roller coaster of silence and arguing that lasted three days. I finally had the courage to tell my husband that he had a decision to make: Would he stay and support our family, or would he go? He opted to stay, but he coped with the news by staying in denial about the diagnosis of Down syndrome.

We went to our first ultrasound at Maternal Fetal Medicine, where they showed us the missing nasal bone and took some other measurements. They sent the results to my doctor, who reported that the baby also had a cyst on his brain that was considered normal and should fade in time. He gently told me that it wasn’t too late for other options. I briefly shared my husband’s desire to terminate the pregnancy because we already had so many children but that I just couldn’t. He asked me to give his number to my husband and to tell him to call if he had any questions or just needed to talk.

Each ultrasound provided new findings. As the months ticked by, we learned that our son had a pericardial effusion and some sort of calcification in his intestine. The 29-week ultrasound showed that the cyst was still there and identified a moderate dilation in his right ventricle and a moderate pericardial effusion. The 34-week ultrasound showed the same but with an increase in dilation and effusion; now they were talking potential Hydrops. I went for a fetal echocardiogram, which confirmed the ultrasound’s findings. My heart was heavy from worry, but I was beginning to accept that I was not in control.  I opted out of the fetal MRI. Everything I read made these results even scarier. I had my last ultrasound at 38 weeks and learned that the cyst and effusion were still there but that the dilation had returned to normal. 

Two days later I went into labor, which went quickly. My purple little guy was placed on my tummy, and he let out a cry. I was so thankful to hear him cry. Once they got him to turn pink it was time to try nursing and with a bit of effort he latched on. I started to cry because this meant I would know when he needed me, and I could feed him. He had an echocardiogram before we went home.  The cardiologist felt confident that the few little holes identified in his heart valves would be stable enough to wait for re-examination at his one-month visit.

During that first month my son cried at appropriate times and, while it was challenging, he was nursing. At one month, the cardiologist told me that he didn’t need to see my son anymore. The holes were closing as expected, and the effusion was close to gone. In time his little blue feet regained their color and soon it was all just a memory. His development was a little bit slower than typical, but my son smiled, giggled, rolled over, crawled, stood up… and we celebrated. His sisters encouraged him, and we found joy in everything from his first giggle to his bowel movements. I never forgot what could have been, so we kept pressing on and encouraging him to be great.

While each ultrasound brought more anxiety about my child’s future, I used those moments to learn how to become what he would need me to be. I accepted that I was not in control of what was happening but that I could control how I thought about the experiences.

When Lincoln came into our lives, we had no idea that it would change our view of the world. We have a chance to teach and learn in every challenge we face. My family is learning sign language as a team. We are spending more time appreciating each other’s strengths, and we are teaching others along the way. When children ask questions about Lincoln, I have an opportunity to speak from love about my little guy before they have a chance to hear any other way. My son has the most contagious smile, and he continues to impress his therapists. 

My son will be two this spring and he is standing on his own, walking with a walker, using multiple signs, and practicing with his voice constantly. He still ranks in the lower 25th percentile, compared with typically developing children, and we work with him daily to encourage his progress.

Has it been easy? Absolutely not! It has taken many therapy sessions and forced us out of our comfort zones. We have cried for him, and we have fears about his future. Being Lincoln’s mom has made me question everything about myself, but I wouldn’t change a thing. He is beautiful, loving, snuggly, smart, aware…. Above all else, he is my little boy.

In hindsight I am thankful for the way that every piece of our puzzle fell into place. This journey has pushed us to our limits and shown us that we can be okay. It gave us the opportunity to learn our boundaries, figure out what is worth fighting for, and that we are a team. I now advise others to open their minds and prepare for a new perspective on life. Your sadness is not wrong: It is real, and it will pass once you realize how much you have to celebrate.