Family history can be important to help determine the right health screenings—but what does it mean for someone who does not have information about all or any genetic relatives? How can donor conceived people get some genetic information? And who is available to help?
General health screenings and guidelines for common health issues like diabetes, heart disease, and cancer are already part of routine healthcare. These are health issues that all humans face and as humans, donor conceived or not, we all have some limitations to what we can know about our genetic relatives. If someone wants to explore genetic history and testing for proactive health measures, there are options. A genetic counselor is one of the healthcare professionals who can help.
Health issues have many different causes. Sometimes they are random, like viruses or accidents. Most health issues that people develop over their lives are multifactorial, meaning there are genetic and nongenetic factors that are involved. Occasionally, conditions are caused by a specific variant (mutation) in a gene. Variants can be inherited from a person’s genetic parents, or happen by chance.
Genetic History:
A genetic exploration can start with anything known about your origin story. Was a sperm donor, egg donor, or embryo donor involved in your conception? Donors will typically be required to fill out forms regarding their and their genetic family members’ health histories. Donors may undergo genetic risk assessments with a genetic professional to obtain a detailed family history. These documents may be available from the donor’s agency or bank and can be a good start to building genetic history for a donor conceived person. Sometimes people can learn more updated information about their genetic history if they connect with genetic relatives, identified through a donor sibling registry or relative finder tools from direct-to-consumer tests.
A genetic counselor can help explore what conditions noted in the history have a genetic impact or contributing factors, and if relevant gene testing is available. A genetic counselor can also provide a genetic view of family history information, which histories may be important for a primary care provider, and if there are screenings that should begin earlier or more frequently than generally recommended.
Direct-to-Consumer Testing:
You may be familiar with “direct-to-consumer” tests like 23andMe and Ancestry.com. These tests offer relative finding tools and information about genetic ancestry. They may also offer information about genetic contributions to complex health issues, such as late-onset Alzheimer’s or Parkinson’s diseases, carrier status for some genetic conditions, trait analyses, and testing that helps predict how people may respond to certain medications (pharmacogenomic testing). Some can be actionable for individualized health screenings or treatments. Results of direct-to-consumer tests are sometimes recommended to be confirmed with clinical grade testing, especially for genes involved with cancer risks.
Clinical-Grade Testing:
We are learning more each year about the genetic factors involved with common conditions that happen for complex reasons, like cancer, infertility, heart disease, and dementia. Clinical-grade testing is a genetic analysis performed by certified medical or genetics labs, analyzing whole genes or common changes in certain genes. This would be ordered with a medical care provider, such as a doctor or nurse practitioner. Clinical tests can look at genes known to be associated with specific genetic conditions like familial high cholesterol (familial hypercholesterolemia), hereditary cardiac conditions like heart rhythm conditions (arrhythmias) or heart muscle conditions (cardiomyopathies), and hereditary predisposition to certain types of cancer like breast, ovarian or colon cancer.
Testing for hereditary predisposition factors is still emerging and may be limited for some health concerns. Genetic counselors can provide information about what different genetic test options can and cannot tell us, the kind of information that could be learned from tests like these, and the risks and limitations of testing.
How is this helpful to me?
Knowing if you are predisposed to develop a condition with a significant genetic contribution before symptoms are present can be helpful for conditions where there are treatments, lifestyle modifications, or different screening protocols to be used for health management.
It is important to know we don’t have years of history testing “healthy” people for these genes, so there are limitations to our understanding. Certain genetic or nongenetic factors might have a more significant impact than we currently realize, influencing genes and the severity of symptoms, even among people who share the same genetic variant. We also don’t fully understand how environmental factors and lifestyle choices affect genetic variants. Therefore, genetic testing can serve as an indication of potential health risks that may vary from person to person.
Some additional things to consider:
The information that may be identified from genetic testing can be complicated from medical and emotional perspectives. Before embarking on a journey exploring your genetics, think about what emotional support you have from peers, partners, family, or a mental health professional.
Something else to consider is that there are likely other donor conceived siblings out in the world, as well as a whole family of genetic relatives on the donor’s side. The reality is that genetic information can be impactful for others who share your genetics. This can be particularly important when a genetic risk is identified from medical histories or testing results. It is essential to approach these interactions with sensitivity and respect for everyone involved.
A genetic counselor can be an important resource as part of this exploration and communication. Ultimately, a genetic counselor’s role is to partner with you in exploring your options, from testing and understanding the information testing provides, to sharing it with others. You can use the Find a Genetic Counselor Tool from the National Society of Genetic Counselors to locate a local or telehealth genetic counselor specialized in working with adults or donor conceived people and begin the journey.
Authored by The Donor Gamete Genetic Counselors
This article represents a collective effort from a group of genetic counselors dedicated to helping donor conceived people, recipients, and donors. Our goal is to offer transparency regarding the processes involved at gamete banks.
Heather Kamen, MS, CGC
Katie Hornberger, MS, CGC
Kathryn Lockwood, MS, CGC
Jennifer Luque, MS, CGC
Brynn Persky, MS, CGC
Jessica Park, MS, CGC