A faster DNA sequencing machine and streamlined analysis of the results can diagnose genetic disorders in days rather than weeks.
Up to a third of the babies admitted to neonatal intensive care units have a genetic disease. Although symptoms may be severe, the genetic cause can be hard to pin down. Thousands of genetic diseases have been described, but relatively few tests are available, and even these may detect only the most common mutations.
Whole-genome sequencing could test for many diseases at once, but its cost, the complexity of the results and the turnaround time are prohibitive. In what they hope will be a prototype for other hospitals, a research team led by Stephen Kingsmore at Children’s Mercy Hospital in Kansas City, Missouri, has implemented a much faster, simpler system for finding relevant mutations in whole-genome sequences that is designed for physicians without specialized genetic training.
These kinds of innovation will help more hospitals bring sequencing into clinical care, says Richard Gibbs, director of the human genome sequencing centre at Baylor College of Medicine in Houston, Texas. “A lot of people are going to realize from this that the future is now.”
Sequencing has been used before to pinpoint the cause of mysterious diseases. In 2011, Gibbs led a team that sequenced 14-year-old twins with a neurological movement disorder and found a way to improve their treatment2. In another instance, whole-genome sequencing suggested that a mysterious case of severe inflammatory bowel disease had a genetic cause and could be relieved through a bone marrow transplant3. But both these examples required several weeks and a team of experts to resolve. The Children’s Mercy Hospital plans to offer routine sequencing in the neonatal intensive care unit by the end of the year.
To order a test, physicians will choose terms from pull-down boxes to describe the infant's symptoms. Software then compiles a list of potential suspect genes. After the genome is sequenced, the software hunts for and analyses mutations in only those genes, which allows it to compile a list of possible causative mutations more quickly. The team had early access to a new DNA sequencing machine from sequencing company Illumina, based in San DIego, California, that could generate a whole genome within 25 hours. The entire process, from obtaining consent to preliminary diagnosis, took 50 hours, not counting the time taken to ship DNA samples and computer hard drives between Illumina's lab in the UK, where the DNA sequencing was carried out, and the hospital, where analysis was conducted. Kingsmore estimates that the cost of sequence and analysis is $13,500 per child, including costs to verify variants in a laboratory certified to perform clinical tests.
Fast sequencing cannot diagnose all genetic diseases. Current sequencing technology tend to overlook mutations such as duplicated genes, for example. Nonetheless, deep sequencing will be able to provide diagnoses for many cases that would otherwise remain harrowing mysteries.
Following the decriminalization of abortion by Roe v. Wade in 1973, the brutality of abortion and the unsanitary conditions of abortion clinics have remained suppressed by the media. In fact, pro-life activist Nancy Creger says that what Kermit Gosnell has been doing at his clinic in Philadelphia, had been happening for years elsewhere.
In 1998, the Georgia Bulletin published a story about Midtown Hospital in Atlanta, which had been the subject of an investigation in 1983 after Creger exposed death certificates revealing that 14 babies had survived second trimester abortions in a three-year period at the facility.
The death certificates showed that the babies had lived for various amounts of time, ranging from 20 minutes to 13 hours, yet there was no indication that the infants were transported to the neonatal unit of a hospital that cares for premature babies. At the time, Midtown Hospital claimed that transporting a baby that survived abortion was a decision to be made by the attending physician.
According to the Bulletin, nine of the death certificates listed “hospital disposal” or “Midtown Hospital” under the category of “Cemetery or Crematory Name.”
“Midtown, I learned, specialized in late-term abortions, and advertised in newspapers up and down the East Coast,” writes Creger in LifeNews. She reports that after she was given copies of the death certificates, she decided to call CNN.
“I knew this was a huge scandal, and that CNN would give it national coverage,” Creger states. She relates that the CNN reporter was all set to go with filming the story, but then suddenly informed Creger that it had been cancelled.
“Someone at CNN wanted the story buried, just like today with the abortion doctor Kermit Gosnell story of the massacre of babies at his clinic,” Creger writes.
Creger states that she then teamed up with Father Noel Burtenshaw, who asked her to write her story. Burtenshaw interviewed regulatory affairs and health department officials. He and the staff at the Georgia Bulletin, the newspaper of the Archdiocese of Atlanta, published her discovery, and the story was out on television, in newspapers, and in national pro-life organizations.
“The relevant section of the Georgia Code in 1983 referred to the possibility of a baby surviving an abortion in the third trimester of pregnancy, and said if this happened medical aid must be rendered,” Creger writes. “There was no reference in the Code to a baby surviving a second trimester abortion.”
Creger states that interviews in 1983 with Department of Human Resources (DHR) officials revealed no clear rules for treating infants who had survived abortions. As a result of her expose, Midtown Hospital was asked by DHR to draft new guidelines for caring for surviving babies, though the decision as to how to handle a born-alive infant was ultimately left to the physician.
“Today, when asked about the Gosnell case, Planned Parenthood states that it’s up to a woman and her doctor,” comments Creger. She says, however, “the possibility of ‘live births’ at Midtown was being eliminated a year after her 1983 expose.
Creger writes that, in August of 1984, the Bulletin reported that an experimental procedure had been developed at Midtown Hospital in which an adult dosage of digoxin was injected directly into the heart of a five-month-old baby in the uterus, with the aim of killing the infant prior to abortion. Essentially, the injection would induce a massive heart attack in the baby.
The Bulletin indicates that, at the time, the administrator of Midtown Hospital refused to discuss the procedure or whether the women patients, whose unborn babies received digoxin injection abortions, were aware they were taking part of an experimental procedure or had given their consent.
Creger reports that she learned the abortion doctors at Midtown were going to Kansas to be instructed in the digoxin procedure by late-term abortionist George Tiller.
In May of 1998, Midtown Hospital was shut down, according to the Bulletin, after the state documented conditions at the abortion facility which “shocked inspectors and revealed women patients were being treated in unsanitary, overcrowded, poorly staffed and dangerous conditions.”
Affidavits filed by the state included reports from two patients and several former employees, in addition to those by DHR.
A 31 year-old patient said that, when she went for an abortion in February of 1998, conditions at Midtown “were so crowded that women were lying on the floor and on chairs after labor had been induced, screaming in pain without any monitoring by staff.” She reported that one woman gave birth in a bathroom that day.
The woman, who said that she was at Midtown from 6:00 a.m. until 9:00 p.m., stated in her affidavit that blood and urine were everywhere, and that staff stepped over patients who were lying on the floor.
Another woman who went to Midtown for an abortion in April of 1998, had to be admitted to a hospital several days later on an emergency basis. She was reportedly suffering from severe pain, bleeding, and vomiting. She was later diagnosed as having had an “incomplete abortion,” according to the affidavit, and ultimately required surgery.
Despite attractions of the role and a demand for services, there is a national shortage of neonatal nurses Denise Evans has nearly 40 years experience of neonatal nursing caring for premature and very sick new born babies.
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