Recently, PatientsLikeMe’s Associate Director of Community Management, Brad Hornback, sat down with Dr. Eric Topol (Founder & Director at Scripps Research Translational Institute) and Christine Von Raesefeld (Patient Advocate) to discuss the topic of genomics and medicine, including how genomic data can affect the healthcare journey and how individuals may receive their own DNA results by participating in the All of Us Research Program.
The webinar resulted in some great questions from our PatientsLikeMe community and social media followers, which we’ve compiled and had our team respond to, below.
In case you missed the webinar, you can watch it here!
Q+A
Question: What are genetics and genomics?
Answer: Genetics is a term that refers to the study of genes and their roles in inheritance – in other words, the way that certain traits or conditions are passed down from one generation to another. Genomics is a more recent term that describes the study of all of a person’s genes (the genome), including interactions of those genes with each other and with the person’s environment. Genomics includes the scientific study of complex diseases such as heart disease, asthma, diabetes, and cancer because these diseases are typically caused more by a combination of genetic and environmental factors than by individual genes. Genomics is offering new possibilities for therapies and treatments for some complex diseases, as well as new diagnostic methods.
(Source: National Human Research Genome Institute, Genetics vs. Genomics Fact Sheet)
Question: Why are genetics and genomics important to my health?
Answer: Genetics and genomics both play roles in health and disease. Genetics helps individuals and families learn about how conditions such as sickle cell anemia and cystic fibrosis are inherited in families, what screening and testing options are available, and, for some genetic conditions, what treatments are available. Genomics is helping researchers discover why some people get sick from certain infections, environmental factors, and behaviors, while others do not. For example, there are some people who exercise their whole lives, eat a healthy diet, have regular medical checkups, and die of a heart attack at age 40. There are also people who smoke, never exercise, eat unhealthy foods, and live to be 100. Genomics may hold the key to understanding these differences. All human beings are 99.9 percent identical in their genetic makeup. Differences in the remaining 0.1 percent hold important clues about the causes of diseases. Gaining a better understanding of the interactions between genes and the environment by means of genomics is helping researchers find better ways to improve health and prevent disease.
(Source: National Human Research Genome Institute, Genetics vs. Genomics Fact Sheet)
Question: Why are genetics and genomics important to my family’s health?
Answer: Understanding more about diseases caused by a single gene (using genetics) and complex diseases caused by multiple genes and environmental factors (using genomics) can lead to earlier diagnoses, interventions, and targeted treatments. A person’s health is influenced by his/her family history and shared environmental factors. This makes family history an important, personalized tool that can help identify many of the causative factors for conditions that also have a genetic component. Family history can serve as the cornerstone for learning about genetic and genomic conditions in a family, and for developing individualized approaches to disease prevention, intervention, and treatment.
Question: Is there information about the implication of knowing our genes? Insurance companies can deny us insurance, employers can deny us jobs. Do you know of any of this happening or any laws to protect us?
Answer: The All of Us Research Program stores blood, saliva, and urine samples in a secure lab called a biobank. The biobank stores DNA information about the samples in a secure database at our Data and Research Center. Researchers who want to study this information must agree to take great care in using it. All of Us will not sell your health information to anyone. The program also has privacy and security safeguards in place to protect personal information and identity. To learn more, view the Privacy Safeguards page or the consent form in the Agreements tab of your All of Us account. The program follows all federal, state, and local laws and regulations for keeping information safe. We also have Certificates of Confidentiality from the U.S. government. They will help us fight legal demands (such as a subpoena) to give out information that could identify you.
The Patient Protection and Affordable Care Act says that health insurance companies cannot use your health information to decide whether to cover you. The Genetic Information Nondiscriminatory Act of 2008 (GINA) is a federal law that protects you from certain kinds of discrimination based on your genetic information. However, in most places, DNA information can be used by disability, life, and long-term care insurers. These insurers can ask you if you have information about your DNA, and you have to tell them what you know. They can use that information to decide if they will cover you and how much they charge. If you find out that you have a health-related DNA change from All of Us, it could make it difficult or more expensive to get these types of insurance. In some places, there are laws that say life, disability, and long-term care insurers can’t use DNA information to decide about your coverage. To find out if you are protected by these kinds of laws, contact the attorney general for your state or territory. You can learn how to contact your attorney general at www.usa.gov/state-attorney-general.
Question: How do you see genomic medicine interacting with existing inequities in the U.S. medical system?
Answer: Genomic medicine can give us the ability to deliver additional care, but access to care will need to be equitable before health can be equitable.
Question: What will be the likely impact of genomic sequencing on individuals’ health care insurance costs and availability in the USA’s health care system? Will the value of being able to predict disease and target treatment outweigh the costs that may come from identifying individual health risks?
Answer: The hope is that prevention and early identification of disease helps to keep people healthier and reduce healthcare costs. Early literature shows that costs do not increase when genomic results are returned.
Question: If the parental health of one parent is unknown, how important is DNA in assessing the unknown health risks?
Answer: Family history can provide additional context to assessing risks, but some information can be provided without it. For instance certain screening tests are available regardless of family history including reproductive screenings, mammograms, colonoscopies and cholesterol screenings.
Question: How do your personal genes affect your predisposition to autoimmune disease?
Answer: Autoimmune diseases arise from a combination of genetic predisposition and environmental triggers that cause the body to attack its own healthy tissues and cells. In rare cases, an autoimmune disease is monogenic, caused by mutations in a single gene. But most of the time, autoimmunity is polygenic, with genetic risk determined by the interplay of numerous genes.
(Sources: Makin, Simon Cracking the genetic code of autoimmune disease, Nature, Vol 595, 15 July 2021 and Autoimmune Diseases, National Institutes of Arthritis, Musculoskeletal and Skin Diseases, Last Reviewed: March 2016)
Question: I would very much like to know how I can use the data I received when I did a DNA test. It was impossible to find out what any of that information meant. I am specifically looking for genetic conditions causing pancreatitis and very stiff muscles in my whole family tree. Also, my mother died of cancer at about the same age I am now, and they just found a cyst on my pancreas. My grandmother died from pancreatitis.
Answer: All of Us does not currently return information about genetic predisposition to pancreatitis, but this could change in the future.
Question: Please explain the significance of SOD1 when both my identical twin son and I have this gene. Does this mean the identical twin has this too? He wants to be tested but this hasn’t happened.
Answer: Identical twins have extremely similar DNA but there are also small differences between them. It is best for both twins to make the active choice to seek testing or to speak with their health care provider for more information about personal genetic risks.
Question: I have ALS. I took genetic tests for SMA and ALS two years ago. I have since found out that the tests I took were specific to the lab used and that there is not a standard set of genes tested. Furthermore, the number of genes implicated in these conditions seems to expand by the month. How can the industry standardize testing?
Answer: The field is growing and changing quickly, hopefully efforts can be standardized in the future.
Question: How does one become an All of Us Participant? Can anyone join?
Answer: To join the All of Us Research Program, visit joinallofus.org/patients. All eligible adults over 18, living anywhere in the United States can join. For more information on enrollment, visit https://www.joinallofus.org/who-can-join.
Question: As an All of Us participant, do I have to learn my DNA results?
Answer: No, learning your DNA results is voluntary. Some people will want to find out. Other people will not. Some people may not be sure right now. It is up to you. No matter what you decide, you can still participate in All of Us. You can change your mind about learning your DNA results at any time. If you change your mind, you need to tell us. You can tell us through the app or website or use the contact information at the end of this form to call or write to the All of Us.
Question: Thanks for a great video. What exactly will you (All of Us) check for in my DNA sample?
Answer: Some people will want to learn about their DNA results. Other people will not. All of Us wants you to make the best decision for yourself. No matter what you decide, you can still participate in All of Us. If you say yes, you are telling us that you want to learn about some or all of your DNA results. When we are ready to check for a specific type of DNA change, we will tell you more about what the results may mean for you. Then you can decide whether you want your results for that type of DNA change. For example, you may want to learn about any health-related DNA changes you have. You might only want to learn results about where your ancestors may be from. Or you might want to learn about all of your DNA results. You get to choose. The list of DNA changes that we will check for may change as researchers make new discoveries. There will be a link to the most updated list of what we check for in your All of Us account. Over time, we may learn new information that could change your results. We may go back and check your DNA again. We will tell you if we find anything new or if we find anything that changes your results.
Question: How will All of Us give me my DNA results?
Answer: Once we are ready to generate a DNA results report for you, we will contact you through your All of Us account. When we contact you, you can log in to your All of Us account. You will see some more information about the specific type of DNA results we are ready to check for. You can then decide if you want those results. If you decide yes, you will get access to a report on that type of DNA results when it is ready. If you decide no, you will not get that type of DNA results.
Because there are different ways to check for different types of DNA results, you can expect to get multiple messages over time. You might get some results pretty quickly but have to wait longer for others. If you need help understanding what the results mean, you can contact our Genetic Counseling Resource (GCR). You can also view educational materials through your All of Us account that can help you better understand your results. For a small percentage of participants, we may find DNA results that could increase your risk of a health condition. If we find this type of result in your DNA, it does not mean that you definitely have or will get a disease. To help you understand the results, you will be invited to make an appointment with a genetic counselor from our GCR. The genetic counselor will discuss the results with you and answer any of your questions. To make sure that we can contact you with your DNA results, please make sure that your email address and/or mobile phone number is up-to-date in your All of Us participant account.
Question: How is genomic testing done in the All of Us Research Program?
Answer: When you join All of Us, you can choose to provide blood or saliva samples, which will allow researchers to analyze your DNA and send you information about your genetic health risk and ancestry. Researchers receive special training and register to use the All of Us Research Hub. They also sign a contract stating that they won’t try to find out who you are. If approved, researchers have access to participants’ DNA information, they will not be able to see a participant’s personal details, such as their name or where they live.
If you provide your blood or saliva samples to All of Us, specially trained scientists at All of Us’ Genome Centers will generate DNA data from your sample. All of Us’ Genome Centers are highly advanced labs that use advanced technology to study and analyze participants’ DNA.
Two ways All of Us will analyze your DNA are by:
- Genotyping – Genotyping looks at a small amount of DNA that gives us information about many of the common DNA changes among us.
- Whole Genome Sequencing – Whole genome sequencing looks at almost all of your DNA.
Click here to learn more about the All of Us Research Program.
All of Us is a research program. It is not medical care. Do not use All of Us as a substitute for medical care. All of Us is a registered service mark of the U.S. Department of Health & Human Services (HHS).
