Free screening for 5,000 couples: USP launches project that will map genetic risk of future children AdobeStock A national USP project intends to offer free genetic screening to up to 5 thousand Brazilian couples who wish to have children in the coming years. The initiative seeks to identify changes in DNA associated with the risk of birth of children with recessive genetic diseases, in addition to generating data that can guide future public health policies. Through genetic screening for couples, participants will be able to discover whether they share mutations related to certain inherited diseases. Based on the results, they will receive genetic counseling to understand the risks involved and learn about the reproductive options available. Called Our Genes, the study is led by Genoma USP — Center for Studies of the Human Genome and Advanced Therapies at the University of São Paulo (USP) — and is funded by the Ministry of Health, through the Genomas Brasil Program, and the Precision Health Notice from CNPq. Participation includes questionnaires, consultations and genetic tests aimed at couples who plan to have children through natural conception. In addition to identifying genetic risks, researchers intend to expand access to information on reproductive health and family planning. Who can participate The project seeks couples who intend to have children in the coming years through natural conception and who meet the following criteria: Being a couple made up of people of opposite biological sexes; Reside in Brazil; Be a SUS user; Woman aged between 18 and 35; Man aged between 18 and 45; Not having children or having only one child, whether from a current relationship, previous relationships or adopted; Have access to the cities of São Paulo, Salvador, Vitória or Brasília. Now on g1 Who cannot participate Not eligible for the study: Pregnant women; Couples undergoing fertility treatment; Couples who already have a biological child diagnosed with a recessive genetic disease. How will participation be The process begins with registering interest and completing an online questionnaire, on the project website, to check whether participants meet the research criteria. After this step, eligible couples will be able to schedule an in-person appointment to collect blood for genetic testing. The analyzes will be carried out by experts from USP and partner institutions. The results will then be presented in a virtual consultation, in which geneticists will explain the findings and their possible implications for future pregnancies. Where services take place Although registration and part of the steps take place online, face-to-face services will be held in four cities: São Paulo; Savior; Victory; Brasilia. The project is coordinated by Genoma USP in partnership with researchers from the Federal University of Bahia (UFBA), Federal University of Espírito Santo (UFES) and University of Brasília (UnB). USP Genome Initiative seeks to identify hereditary changes associated with recessive genetic diseases AdobeStock What are recessive genetic diseases All people carry genetic variations in their DNA. Most of the time, these changes do not cause health problems, but they can become relevant when both members of a couple have changes in the same gene and plan to have children. In these cases, there is the possibility of transmission of genetic changes associated with recessive diseases. In recessive inheritance, if a woman has a mutation in a gene associated with muscular dystrophy, for example, and her partner has a mutation associated with deafness, there is no problem. This is because, even if the child inherits one of these changes, just one copy of the mutation is not enough to cause the disease. But, if both have the same mutation associated with deafness, for example, there is an increased risk of their children developing the condition. Currently, most couples in Brazil only discover that they are at increased risk after the birth of the first affected child. This is because genetic screenings are still concentrated among people who have access to information and are able to afford the procedure. According to the researchers, the project seeks to expand the scale of screening to reduce costs and evaluate the feasibility of future public health strategies. Many countries, such as Australia and the United Kingdom, are also implementing public screening programs for people who want to have children. How genetic screening for couples works Project participants will have access to genetic counseling and specific tests to analyze hundreds of genes related to the diseases included in the study. The proposal is to provide information that assists in family planning and reproductive decisions. Furthermore, the researchers state that the initiative can contribute to the primary prevention of other health problems in babies, including congenital anomalies. Couples will be followed for several years Participants will be followed over a few years. The expectation is that this monitoring will allow us to understand how genetic information influences family decisions and what the impacts of this knowledge are on the health system. The researcher responsible for the project and professor at the USP Biosciences Institute, Michel Naslavsky, highlights that access to genetic technologies is still limited for a large part of the population. Everyone shares the desire for the child to be healthy, but many future parents are unaware of the existence of this type of information. According to him, the initiative seeks to democratize this knowledge to support reproductive decisions and contribute to Brazilian public health. Couples will be able to make informed choices by knowing the risks of having children with recessive genetic diseases, according to Naslavsky. Who are the project’s target couples? Naslavsky explains that there are two priority groups for the initiative. The first is made up of couples who have a family history of recessive genetic diseases and whose relationship already indicates an increased risk of sharing pathogenic variants which, when inherited in double doses, can lead to the development of these conditions in their children. The second group is made up of people without any known family history. In these cases, partners may also share changes in the same gene without knowing it. When both carry pathogenic variants related to the same gene, the probability of transmission increases significantly, reaching up to 25%. What genetic testing can reveal before pregnancy The tests offered by the project are restricted to the analysis of genes associated with some recessive monogenic diseases and Fragile X syndrome. The genes evaluated were selected based on criteria supported by scientific evidence, prioritizing serious diseases that begin in childhood and without specific treatments or with high-cost therapies. The analyzes follow current criteria for identifying clinically relevant variants. Results will be delivered to participants in reports and presented during a genetic counseling session. At this stage, couples receive information about the identified risks and available reproductive options. Does the test completely eliminate the risk? Naslavsky explains that the project does not intend to track all genetic diseases. Some are left out due to analytical complexity; others, due to technical impossibility, such as those resulting from new mutations or chromosomal non-disjunction. According to him, monitoring the possible occurrence of these diseases will be important to understand their incidence and improve future screening strategies. A couple who discovers that they do not carry the mutation associated with a disease present in the family may, on the other hand, identify the risk of another recessive condition that can be treated if diagnosed early. Every couple is at risk of having children with genetic diseases or congenital malformations. This average, or population, risk is about 5%. Some couples, however, are at greater risk when they have a positive family history or some degree of kinship. Even with genetic mapping, it is not possible to rule out the emergence of a new mutation during a naturally conceived pregnancy, nor diseases caused by genes not investigated by the tests or multifactorial conditions, in which genetic and environmental factors interact for the disease to manifest itself. What happens when a couple is at increased risk? Naslavsky states that each situation is evaluated individually. According to him, reproductive options depend on the findings and context of each couple, who will receive guidance to make decisions aligned with their own values ​​and objectives. "The team is trained to answer questions and help the couple with the paths to follow. Among the paths, assisted reproduction, a method that has been successfully consolidated for decades, can help the couple to implant only embryos without the variants identified in the family, reducing their risks", he states. Duchenne dystrophy: an example of a recessive genetic disease Duchenne muscular dystrophy is a disease in which a child is born apparently healthy, but has a genetic mutation that can lead to progressive loss of muscle throughout childhood. The incidence of the disease is one case for every 3,500 boys. The condition only affects males. According to researchers, about two-thirds of cases are genetically inherited, while one-third result from new mutations that cannot be prevented. There is currently a gene therapy available for the disease. The results, according to the researchers, are still modest and the treatment costs around US$3 million per patient. "Patients enter Brazil with a writ of mandamus to obtain it. So, precisely because some diseases can be treated at an exorbitant cost, the government was interested in trying to prevent births", says biologist, post-doctorate in human genetics, professor of genetics and coordinator of Genome USP, Mayana Zatz, who studies Duchenne muscular dystrophy. According to the researcher, when a case of the disease is identified, the team investigates the family to see if other relatives also carry the mutation. In families that are unaware of this risk, a woman may have more than one affected child before a genetic diagnosis is made. In some cases, the second child is born even before the diagnosis of the first is confirmed. How the project can influence public policies In addition to assisting participants, Nosso Genes aims to estimate how many Brazilian couples are at increased risk of having children with recessive genetic diseases. According to the organizers, this information could help the health system plan future demands related to reproductive planning, including possible access to assisted reproduction with embryonic genetic testing for couples who choose this path. The study also seeks to reduce inequalities in access to genetic information, which is still poorly available to a large part of the population.