More than half of adults who either have hemophilia or are family members affected by the disease support the use of preconception and prenatal genetic screens, a survey reveals.
However, 90 percent of this population do not agree with ending pregnancies due to hemophilia, the results also showed.
Findings of the survey were reported in a study published in the journal Molecular Genetics & Genomic Medicine. The study was titled “Preventing lives affected by hemophilia: A mixed methods study of the views of adults with hemophilia and their families toward genetic screening.”
Hemophilia is a genetic disorder caused by the faulty production of blood clotting factors due to genetic mutations affecting the genes that provide instructions for making those clotting factors.
Using genetic testing to detect disease-related mutations can confirm whether or not a person has a genetic disease. But the testing can also provide important information to those who do not have a genetic disease but are carriers of disease-associated mutations.
Counseling based on genetic information is an important step for families and adults with hemophilia or any other genetic disease. Preconception and prenatal genetic screens can help them better understand the disease and its overall impact, as well as help them make decisions that are critical to the future of their families.
Despite the important role genetic screens may play for the hemophilia population, there are still many ethical and clinical concerns on this matter. While many people support the broad use of genetic screens, others are against it, especially in terms of its use in providing reproduction guidance.
“Within a broader cultural and technological context whereby genomic technologies are becoming both more efficient and more accessible than ever before … the reflections of affected adults and their families will only become increasingly important,” the researchers wrote.
“As a society, we are facing significant decisions about which conditions are considered serious enough to warrant their prevention (or even gradual elimination) through population level genomic screening and, as such, the accounts of people living with genetic disease — the best “experts” on their condition — are critical to these decisions,” they said.
First, the team conducted interviews to explore the perspectives of families and adults living with hemophilia on screening and reproductive genetics. This study enrolled 22 participants, 10 of whom had a bleeding disorder — six males with hemophilia, one male with factor XII deficiency, and three females with Von Willebrand disease.
In the interviews, the participants were asked about their experiences living with hemophilia, its impact on daily life, and their views on reproduction in the context of genetic technologies, as well as their perceptions on the possibility of population carrier screening for hemophilia.
Based on the interview data, the team built a survey called the Haemophilia Screening Survey to further explore if the reported opinions of this small group were shared by a larger hemophilia population. The team analyzed data collected for six months between January and June 2018.
A total of 327 individuals responded to the survey, of whom 75.7% were family members of people with hemophilia and 24.3% had hemophilia themselves. Most (85%) of the participants were older than 35 years, 77% had children, and 56% were religious.
More than half (57%) of survey respondents were in favor of preconception genetic screening (PCGS), results that were similar between hemophilia A and B patients and families. The main reasons for supporting PCGS were that this approach could reduce the number of pregnancy terminations and that it would help to raise awareness of hemophilia in the general population.
Approximately 35% of respondents said they did not perceive PCGS as a form of social engineering, and 37% reported that carrier genetic testing would not change their choice in reproductive partner.
Although 39% of survey participants did not believe that PCGS would lead to stigmatization of carriers, 45% of hemophilia A respondents stated that carrier stigmatization could be an issue. About 24% of participants with hemophilia B had the same views.
Of the participants, 59% reported being in favor of prenatal genetic screening (PNGS). Again, the level of support was similar between hemophilia A- and B-linked participants.
For 67% of the respondents, the main reasons given for supporting PNGS were that this test could help people make informed decisions about a pregnancy, and 74% also said it could raise awareness of hemophilia in the general population. Still, 35% of survey participants did not agree that PNGS would help prevent unnecessary suffering.
“Screening is principally about providing information to expecting parents; what parents subsequently decide to do with this information is an individual decision,” the researchers wrote.
Survey data showed that 69% of respondents believed that PNGS is important to prepare parents for the birth of an affected child, and 90% disagreed with using pregnancy termination to prevent the disease.
Both interviews and survey data revealed that “hemophilia‐affected families and adults broadly support PCGS and PNGS,” the researchers said. They also showed a trend toward “testing for information for preparation purposes rather than to avoid genetic disease, which “could explain why PNGS garnered slightly more support from the [participants] than PCGS.”