The God of the Bible is also the God of the genome. He can be worshipped in the cathedral or in the laboratory. His creation is majestic, awesome, intricate and beautiful – and it cannot be at war with itself. Only we imperfect humans can start such battles. And only we can end them.”
― Francis S. Collins, The Language of God: A Scientist Presents Evidence for Belief
Twelve years ago, I was accepted into Northwestern University’s genetic counseling program and was excited to begin a journey into a unique career blending science and people. I had always pictured myself going to medical school yet genetic counselors kept showing up in my college classes, planting a seed that genetic counseling was the path I was meant to take instead. When I started graduate school, I thought genetics was an interesting subject and I wanted to help people. What I’ve experienced in the time since then is that genetics is not just interesting—it’s amazing, intricate, complex, and an incredible glimpse into the code by which God created us. Understanding this code not only leads to awe for the one who created it, but it can be leveraged to help people and save lives.
What do you think of when you hear the word “genetics”? Is your first thought designer babies? Gene editing? While these might be interesting or controversial hot topics, this is not the everyday application of genetics happening all around us. Genetic testing can be found in common places like your primary care or OB-GYN clinic, the cancer center down the street, or even at your local Target pharmacy. Therefore, when navigating this topic it’s important to start by understanding the testing that is being used on a day-to-day basis.
Despite becoming standard of care, studies consistently seem to demonstrate that people who self-identify as Christian may be less likely to pursue genetic testing, especially in a prenatal context (Pivetti et al., 2010; Sayres et al., 2014). Additionally, medical providers who identify as Christian may be less likely to offer genetic testing to their patients (Poppelaars et al., 2004) and genetic counselors (GCs) are less likely to identify as Christian, believe in God, attend religious services, pray, or believe in an afterlife (Cragun et al., 2009).
Why this tension? As a Christian myself, I think I understand some of the reasons this bias exists, but I’d like to suggest that genetic testing can offer some life-giving and even life-saving benefits. Genetic testing is used in many medical specialties but cancer risk and prenatal testing provide a great place to start unpacking two practical questions genetic testing can answer: What is my cancer risk? And is my baby healthy?
Question 1: What is my cancer risk?
Cancer. Nearly all of us have been affected it in some way. Cancer is a horrible disease that leaves children without their parents—or maybe more tragically, parents without their children—slowly stealing life away from the body. As Christians, we believe that there is great hope even in the midst of suffering, but we are also called to alleviate suffering. The good news is we are living in a time where we can help families prevent cancer and avoid the devastation this disease causes.
High Risk Genes
There’s good news and bad news. The bad news is that approximately 80% of cancers cannot be prevented. We simply don’t yet know what causes them. The good news is that the remaining 20% of cancers could be prevented. These “hereditary cancers” are caused when a gene mutation is passed down from parent to child, leading to a very high risk of developing cancer. Hereditary cancers can be prevented or detected at an earlier, treatable stage if you know to screen for it. When a family is identified as high risk, they are recommended for more frequent screenings beginning at a younger age, medications to reduce their risk, or preventive surgeries.
There are approximately 50 well-known hereditary cancer syndromes, and genetic testing is the tool used to diagnose these syndromes and identify these families. It is estimated that 1 to 4 out of every 10 people have a family history suspicious of a hereditary cancer syndrome and meet the national criteria for testing (Hughes et al., 2003; DeFrancesco et al., 2018). These families are walking around with an incredibly high risk yet they are often unaware. A genetic test result does not give them this high risk; it brings the risk to light so actions can be taken to prevent cancer or find it early. If we can do a better job of finding these families, we can prevent more cancer.
My friend, Diane Hardesty, watched cancer devastate her family for years. Thirteen members of her family had at least one cancer; four family members had multiple cancers; and only three remain to call themselves a cancer survivor. In 2007, a name was finally given to the destructive force in her family: Lynch Syndrome. This syndrome carries a very high risk of colon, endometrial, ovarian, and other cancers.
With this knowledge, Diane has diligently followed the recommended cancer screening guidelines for families with Lynch Syndrome. Six times those screenings resulted in finding precancerous changes before they turned into a cancer. Prior to knowing they had Lynch Syndrome this family experienced ten cancer deaths. In the time since, they have not had one cancer-related death. Genetic testing has given Diane the opportunity to love on her kids and grandkids unlike so many other mothers in her family. While her family history might look more striking than most, Lynch Syndrome is not uncommon. One out of every 279 people have this same syndrome, most of them unaware.
SNPs: The future of cancer risk prediction
When Francis Collins wrote The Language of God in 2006, he described high-risk genes like Lynch Syndrome and predicted what the future may hold. “It is likely in the next few years to reveal the most common genetic glitches that place individuals at risk for cancer, diabetes, heart disease, Alzheimer’s disease, and many other conditions. It will allow each of us, if we’re interested, to obtain a personal readout documenting our future risks of illness.” (page 240). We’re not there yet. No genetic test is currently able to provide a comprehensive guide to your future disease risks, but in the specialty of cancer genetics we are making great strides to understand the impact of common genetic markers and their association with cancer risk.
In addition to high-risk gene mutations like those that cause Lynch Syndrome, other types of genetic changes can be passed through the family. Some of these genetic changes are called single nucleotide polymorphisms, or SNPs. Individually, SNPs have very little impact on risk but collectively these markers can increase or decrease one’s risk to get a disease. SNPs and their association with breast cancer have long been studied and commercial testing for breast cancer SNPs is now available. These genetic markers are another tool able to provide a personalized cancer risk so that high-risk individuals can pursue additional screenings or cancer prevention methods.
This brings us to a more personal case example, my own. Breast cancer has been a part of my family’s story for 20 years. My mom was diagnosed with breast cancer at the age of 40 when I was in seventh grade, again with a second breast cancer when I was in college, and then diagnosed with metastatic disease five years ago while I was pregnant with my son. My family qualifies for cancer genetic testing and previously had testing for the high-risk breast cancer genes like BRCA, PALB2, ATM, etc. However, this testing was negative, or normal, for both my mom and myself. When SNP testing became available, I updated my testing and the results revealed that I had a breast cancer risk of 43%. Had is the correct word because knowing this information I underwent a prophylactic mastectomy last year and lowered my risk to approximately 1%. You see, while that decision to have surgery might not be right for everyone, I have two young kids and I never want to have to tell them I have breast cancer. Not when I knew my risk and could have prevented it.
Understanding your family history and pursuing genetic testing can provide lifesaving and life-giving information and provides hope to families in the fight against a horrible disease. I think it’s safe to say that Christians are less likely to feel resistance towards genetic testing when it comes to cancer risk. There seems to be an obvious benefit. In my experience, the resistance grows when deciding to pursue genetic technologies in the prenatal context.
Question 2: Is my baby healthy?
Studies consistently show that patients who self-identify as Christian or religious are less likely to pursue prenatal genetic testing, and health care providers who identify as religious may be less likely to offer this testing to their patients (Pivetti et al., 2010; Sayres et al., 2014; Poppelaars et al., 2004). My professional experience matches these findings. This is likely because of a perception that discussions of prenatal testing may lead down a tricky path of pregnancy termination. Patients and healthcare providers are sometimes quick to say that if you wouldn’t end the pregnancy, then there’s no utility in doing testing. The problem with this simplistic approach is that even if parents wouldn’t choose to end a pregnancy, genetic testing can still offer important—even lifesaving—information about the baby. While guidelines reinforce this testing as optional, it’s important that Christians have a better understanding of what this technology can provide so they can make a truly informed decision to pursue or decline testing. There are two kinds of tests that are routinely offered: carrier screening and aneuploidy screening.
Carrier screening is typically offered before or during pregnancy to identify couples at risk of having a baby with a genetic syndrome. The majority of these conditions are referred to as “recessive,” defined by the way they are inherited. For a child to have a recessive condition they must inherit two mutations for the same syndrome, one from their mom and one from their dad. Carrier screening can be offered to both parents to see if they are carriers of the same condition and thus would be at risk of having a child born with that condition. Historically, carrier screening was based on ethnicity with certain syndromes being more common within certain ancestries. However, as genetic technology has evolved, it is now becoming more common to perform expanded carrier screening in which parents can be tested for hundreds of syndromes at one time.
Although the exact number varies by panel, metabolic conditions account for many of the conditions for which a person may be tested as part of an expanded carrier screen. Metabolic disorders are caused by a defective gene that results in enzyme deficiencies. Depending on the disorder, your body might have a hard time breaking down carbohydrates or proteins or fats and this can create a dangerous imbalance in the body. Babies born with metabolic disorders may look healthy at birth but can quickly become critically ill. In most cases, altering the diet or giving treatment as quickly after birth as possible will treat the disorder and allow these babies to live healthy lives.
For example, galactosemia is a metabolic condition where the body is not able to break down the sugar galactose. When a person with galactosemia consumes foods that contain lactose or galactose, these sugars build up in the body. Galactosemia treatment must begin immediately after birth and requires the exclusion of lactose/galactose from the baby’s diet. This includes switching the baby from breast milk or milk-based formula to a low-galactose formula. Long term this means strictly avoiding a lengthy list of foods that include butter, milk, and yogurt. If a baby with this condition is left untreated, the side effects of galactose build up can be fatal. If treated early with diet changes and maintained throughout the lifetime, most people with galactosemia can live normal lives.
The urgency in diagnosing metabolic disorders is widely recognized and evidenced by their inclusion in mandatory state newborn screening programs. While states can vary in the specific conditions screened for, every baby born in the U.S. is tested for a number of conditions between 24-48 hours after birth. The goal is to provide a quick diagnosis and early treatment to babies that could be very sick.
Newborn screening saves lives but it’s not perfect. States have different procedures for how the baby’s blood sample is collected and transported from the hospital to the lab. They may utilize different testing methods. They have varying turnaround times and different approaches for interpreting results (Shaikh-Lesko, 2017). Unfortunately, when diagnosing metabolic disorders, time is of the essence.
In 2009, Noah Wilkerson was born at a Colorado hospital on a Friday. Early Saturday morning his blood was drawn for the newborn screen. This screen should have detected the serious metabolic condition he was born with, MCAD deficiency. However, delays in getting the sample to the lab had devastating consequences when Noah died four days after birth (Fauber, 2013). Had Noah’s condition been recognized earlier, he could have started treatment and would likely be alive today. The majority of carriers of metabolic conditions learn their carrier status only after their child receives a diagnosis. Undergoing carrier screening before or during pregnancy can identify parents as carriers earlier. The baby can then be tested during pregnancy, giving information on whether the baby will need treatment immediately after birth. For metabolic conditions, timeliness can be the difference between life or death and genetic testing is an important tool in the process.
I’ve been pregnant twice and have had many pregnant friends, and I see a trend supported by the data. Many of my Christian friends decline this screening because they would not end the pregnancy. Deciding to pursue testing should be an informed choice consistent with your values, but the discussion about what this testing can and cannot tell you is often cut short in busy prenatal appointments. I sometimes doubt that women are given the information needed to make a truly informed decision.
Trisomy 13 and Trisomy 18 are heartbreaking conditions: these babies typically die shortly after birth. Due to the severity, anomalies seen on ultrasound will typically suggest one of these conditions. Down Syndrome, or Trisomy 21, can have a much more typical presentation on ultrasound and can go unrecognized during pregnancy.
Although you may not choose to end a pregnancy, you still may do something different during the pregnancy. If you were to know your baby had Trisomy 13 or Trisomy 18 would you want to plan? You may want to build a support network or arrange for pictures to be taken at birth. You may want to build in time to grieve over this unexpected path. Knowing that your baby has Down Syndrome might help your doctor know to do an echocardiogram during pregnancy to look for heart defects. This may help you determine at what hospital to deliver or if any additional services may be needed at the time of birth. You might find it valuable to give yourself more time to inform family and friends, find support, and do research. Knowing this information about your baby might help you plan for, adjust, or grieve the path you didn’t see coming.
The discussion of carrier and aneuploidy screening inevitably leads to complex issues like reproductive technologies and pregnancy termination. Prenatal genetic information can often be devalued because of a lack of understanding of potential benefits. While Christians typically identify as pro-life, many have personally been affected by pregnancy termination, and it’s important to handle these conversations with love, understanding, and grace.
God created us all with a unique genetic code and, as a genetic counselor, I love having even just a small glimpse into the complexity of life God designed. Using technology available to us today we have an opportunity to get a glimpse into that code and use that information for good. I encourage you to learn more about what genetic tests can and cannot tell you and the benefits of the testing available today. Genetic testing evolves quickly and Christians are needed in this space. Inevitably, we’ll be facing more complex and controversial issues in the years to come. We’ve come a long way in our understanding of genetics, yet we’ve barely scratched the surface. I’m grateful God has given me the opportunity to understand a very small piece of His creation and I know my awe will only increase as more discoveries are made in the coming years.
The views expressed in this article are the author’s own and do not represent the views of her employer Myriad Genetics.