Do Mothers Have a Say?
A recent breakthrough in genetic engineering suggests new options in treating genetic diseases while raises ethical concerns.
Her phone rang. It was the oncologist.
Kate Romanczuk knew immediately what was waiting for her. After losing her grandmother and mother to ovarian cancer, Romanczuk found out she has a family history of mutated BRCA gene, a hereditary mutation that increases her risk of breast and ovarian cancer.
Before the doctor could give a diagnosis of her BRCA gene status, an unknown mass found on Romanczuk’s ovary resulted in the loss of her fallopian tubes and left ovary. The doctors decided they needed to be more cautious because of her family history.
The call on June 14, 2016, was the confirmation letter. After consulting with her oncologist and breast surgeons, Romanczuk, who lives in Prospect Heights, decided to go with a full-mastectomy — removing the entire breasts — before any tumor could grow.
Almost 25 pounds of breast tissue were removed.
Maybe only the worn-out chair cover can tell how much pain Romanczuk has gone through after the surgery. She lived in the recliner chair where she sat, ate and slept for almost three months.
Romanczuk’s son, now 17, and her daughter, 15, have been instructed by doctors to get a genetic test at the age of 25.
It is estimated that 45 to 64 percent and 11 to 39 percent of female BRCA mutation carriers will develop breast cancer and ovarian cancer respectively in their lifetime according to the National Cancer Institute. But females are not the sole victims; male carriers also have an increased risk of breast cancer and prostate cancer.
“I just hope every day that they come out negative,” said Romanczuk after a deep breath. “I hope by the time they get tested, something happens where they don't have to go the same route that I did with that surgery.”
There is a 50 percent chance that the offerings of a BRCA mutation carrier, regardless of sex, will have the mutation. That number is only if the other parent is healthy.
“If I knew before I got pregnant or before I planed a family that I’m BRCA I positive,” said Romanczuk, “ I don't think I would take the chance of bearing kids with this cancer cloud over their head.”
Her daily prayer works; something is happening.
A study, led by researchers from Oregon Health and Science University, successfully repaired a mutated gene in human embryos that’s related to a type of heart disease. CRISPR, a technology that allows site-specific gene editing, is used in the experiment.
Back in 2015, a research team in China pioneered genetic modification in human embryos using CRISPR. But the experiment had low efficiency; only four of 26 embryos were successfully modified, and it produced many unintended mutations.
The recent breakthrough, however, is able to avoid all off-target mutations by inserting gene-editing components along with the sperms before fertilization, according to the study. The significant improvement in accuracy suggests the possibility of using CRISPR clinically for correcting disease-causing mutations, including BRCA, in unborn babies.
“If there is a chance for them to be healthy 100 percent than… a 50/50,” said Romanczuk when she was asked whether she would choose to edit her children’s genes. “I think I would.”
However, apart from the technical applicability, the society’s ethical standards also determine whether gene editing will be used to treat disease in the future. Different from somatic gene editing where the change in gene will not be passed on to the next generation, what the experiment did was germline editing. Genetic modification in germline cells, such as sperms and eggs, will result in inheritable changes.
Thus, it’s no longer about curing disease in one person , which affects only one family. It becomes a decision that will have “cultural, medical and social impacts” for multiple generations according to Maureen Smith, the director of NUgene project for human genetic research at Northwestern University.
“We need to be cautious with the ramifications for editing,” said Smith. She chose to reserve her judgment on whether gene editing in human embryos should be applied clinically. “It’s a slippery slope.”
The door of modern genetic research was knocked open by Gregor Mendel, who came up with the theory of heredity after observing the traits of pea plants. Shortly after Stanley Cohen and Herbert Boyer developed a technology to cut, transfer and paste genes between bacteria, the first genetically modified mouse was produced in 1974. The speed of technology advancement outpaced the evolution of the society’s ethical standards, so ever since the birth of the first test-tube baby, Louise Brown, in 1978, the debate over human interference with natural selection has never stopped. Then came the first cloned mammal, Dolly the Sheep, in 1992. Genetically modified human embryos followed, first in 2015, and with improvements in 2017.
“Some people have drawn the distinction between research that happened in the laboratory, and clinical application,” said Ben Hurlbut, a bioethicist from Arizona State University. “I found that distinction problematic. It is clear that it is developing these techniques for clinical applications, for making babies.”
Insisting that one laboratory or one university is “not in the position of making those judgement calls”, Hurlbut was disturbed and dismayed that this research on human embryos went forward.
“It…takes us toward new kinds of capacity for producing children that we have new kinds of control over,” he said. “Whether those capacities should be developed, what they should be used for under what circumstances and what that means for how we understand our obligations for our children.”
Regardless, there’s a long way to go, because the controversies over genetically modified food have yet to be addressed.
But as a mother who has experienced the loss of loved ones and the torture from diagnosis and surgery herself, Romanczuk sees the breakthrough as a great opportunity for those unfortunate families with hereditary genetic diseases.
“Ethical issues… they are always gonna be there,” she said. “But it should be a mother’s decision. If a mother wants to protect her child, she should be able to.”
