New technologies are expanding the reach and accessibility of preimplantation genetic testing of human embryos. But what these advances can deliver is still unclear, and a frank assessment of their profound ethical implications is urgently needed, concludes a commentary in Nature Medicine.
The authors are Josephine Johnston, director of research and a research scholar at The Hastings Center, and Lucas J. Matthews, an assistant professor at Columbia University who is a Hastings Center presidential scholar. They cite several ethical questions about the use of polygenic risk scores, or PRS, (which combine the effects of many genetic variants with individual small effects into a single risk estimate) during in vitro fertilization, including:
- PRS exhibit limited predictive accuracy in populations of non-European ancestry.
- Patients may not fully understand the risks and limitations of the tests, and fertility clinics may lack the time and resources to explain them. This problem would be exacerbated if “testing for common diseases [were] bundled into treatment packages or routinized in ways that gloss over details and implications for subsequent care, as appears to have been the case with some prenatal screening tests.”
- Expanded genetic testing, like existing preimplantation genetic tests used to identify embryos with or without specific genes, could be labeled discriminatory because it involves embryo selection on the basis of genetic risks for specific diseases, disabilities, or traits.
The commentary responds to an article in Nature Genetics that describes a method to enable polygenetic testing for 12 common diseases. This method could make preimplantation genetic testing far more common than it is today.
Until now, most of the debates around the preimplantation genetic testing “have been confined to specialist and academic circles and personal challenges for relatively small numbers of people,” Johnston and Matthews write. “The rapid development of fast and affordable molecular genotyping and PRS construction for common conditions . . . could soon make these challenges a reality for countless clinicians and patients.”
Should the new techniques be used to screen embryos for social outcomes, such as educational attainment, “the justice issues will be greatly compounded.”
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Polygenic Embryo Testing: Understated Ethics, Unclear Utility
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Good Dental Health Essential in Sickle Cell Anemia, Study Finds |… – Sickle Cell Anemia News
Good oral health is essential in people with sickle cell anemia (SCA), according to a new study from Saudi Arabia that found that several disease-causing bacteria species — including Enterobacteriaceae — were significantly more abundant in a group of patients with poorer dental health than in those with better oral care.
“A healthy mouth has a balance of bacteria, but inadequate oral health narrows the range of bacteria, resulting in oral dysbiosis, a state in which beneficial bacteria decrease and potentially pathogenic [disease-causing] bacteria increase,” the researchers wrote.
The findings also indicated that patients with low levels of hemoglobin F — a type of hemoglobin normally produced during fetal development — had a significantly higher prevalence of harmful bacteria species than those who had higher levels of the protein.
“Our data further emphasise the importance of routine oral hygiene visits for patients with SCA,” the team wrote, adding, “This is especially important for patients with SCA and low [hemoglobin F], who have a higher probability of hospitalisation and clinical complications compared to patients with SCA and high [hemoglobin F].”
The research’s findings were reported in “Oral microbiota analyses of Saudi sickle cell anemics with dental caries,” a study published in the International Dental Journal.
Examining good versus poor dental health in SCA
Sickle cell disease (SCD) is caused by mutations in the HBB gene that lead to the production of a faulty version of hemoglobin, the protein in red blood cells that is responsible for carrying oxygen through the body. This faulty version is called hemoglobin S.
People with sickle cell anemia or SCA, the most common and often the most severe form of SCD, have two faulty gene copies encoding hemoglobin S.
Complications of dental caries or tooth decay, including acute pain, are often observed in patients with SCA — and have been associated with poor quality of life.
In a healthy mouth, different bacteria species co-exist in a balanced ratio. However, in cases of inadequate oral health, the number of beneficial bacteria decreases, while that of potentially harmful ones increases. This can lead to dental caries, which often result in cavities and other oral health problems.
“Although ample evidence indicates a causative correlation between the disruption of the oral [bacteria] and dental caries, the effect in SCA has not been investigated,” the researchers wrote.
Now, a team from the Netherlands and Saudi Arabia conducted a study to examine oral bacteria composition in people with SCA. Their aim was to compare bacteria species in patients with a high decayed, missing, and filled permanent teeth (DMTF) index — a measure of dental health — compared with others who had a low index.
In addition, they evaluated the effect of hemoglobin F levels on bacterial composition by comparing the profiles of patients with low and high levels of the protein. Fetal hemoglobin or hemoglobin F is considered a major modulator of disease severity in SCA.
This type of hemoglobin normally is found in fetuses and newborn babies, but is typically replaced by another hemoglobin variant after birth. However, hemoglobin F is more effective at transporting oxygen than its adult counterpart, and may, therefore, help to counteract the harmful effects of hemoglobin S on blood flow and oxygen transport.
In some individuals, the levels of hemoglobin F remain relatively high during childhood, and only start to decline later on in life, rather than immediately after birth.
High levels of Enterobacteriaceae bacteria found
This new study was conducted in the Eastern Province of Saudi Arabia, where the disease is highly prevalent. It included 100 patients, ages 5–12, from whom saliva was collected.
Among the patients, 27 had high dental caries — reflected by a high DMTF index of five points or more — and 73 had low dental caries, indicated by a low DMTF index of four points or fewer.
The research team identified 416 bacteria species in the patients’ samples. When analyzing their prevalence, seven were found to be significantly more abundant in patients with a high DMTF index than in those with a low index.
In addition, eight bacteria species were found to be significantly more prevalent in patients with low hemoglobin F levels compared with those with high levels of the protein.
In particular, the Enterobacteriaceae bacteria species, which have been associated with severe infections and high rates of antibiotic resistance, were found in great abundance in both patient groups, being the most significantly abundant bacteria species among those with low levels of hemoglobin F.
“It has been suggested that the presence of the Enterobacteriaceae species in the oral cavity is favoured when an individual’s immunity is compromised,” the researchers wrote, adding that “patients with SCA are immunocompromised.”
Overall, these findings indicate that Saudi SCA patients with poorer dental health and low levels of hemoglobin F have a higher predominance of harmful bacteria in their mouth.
Our data further emphasise the importance of routine oral hygiene visits for patients with SCA.
“Our results provide a valuable addition to the global microbiome reference data set in an underexamined community,” the researchers wrote, adding, “These efforts are essential and warranted given the scarcity of [bacteria composition] data in Middle Eastern populations.”
Nevertheless, a study with a large sample size evaluating how oral bacterial species can relate to dental caries in SCA patients is required, the team noted.
The researchers said their findings indicate the important of good dental health in people with sickle cell anemia, given that the bacteria species otherwise found “are thought to drive the development and progression of dental caries.”
Good Oral Health Crucial in People with Sickle Cell Anemia, Study Finds – Oral Health
A new study from Saudi Arabia found that good dental health is vital for people with sickle cell anemia (SCA). The findings observed that multiple disease-causing bacteria were seen much more in the patients with poorer oral health than those with better oral health.
Patricia Valerio, PhD, noted, “The findings also indicated that patients with low levels of hemoglobin F – a type of hemoglobin normally produced during fetal development – had a significantly higher prevalence of harmful bacteria species than those who had higher levels of the protein.”
This research shows how important good oral hygiene is for patients with SCA and low hemoglobin F.
Respiratory viruses on decline: Province – Brandon Sun – The Brandon Sun
Hospitalizations due to influenza, COVID-19 and respiratory syncytial virus (RSV) have all decreased in Manitoba, according to the province’s latest epidemiological respiratory virus surveillance report.
Data for the week of Jan. 15 to Jan. 21 indicates this respiratory virus season may finally be nearing its end, after it began earlier than usual and caused surges of severe illness and hospitalizations, particularly among babies and toddlers.
There were two flu-related hospital admissions that week, none requiring intensive care, while the Influenza A test positivity rate fell to 0.8 per cent, compared with 1.9 per cent the previous week. No cases of Influenza B have been detected provincially yet this season.
There were 105 detected cases of RSV, with a weekly RSV test positivity rate of 8.3 per cent. The previous week, the test positivity rate for RSV was 8.7 per cent.
There were seven patients with COVID-19 in hospital, as well as three in intensive care. No new COVID deaths were reported, but the province retroactively updated its COVID-19 death toll. There were 15 deaths added to the total count last week, for an overall number of 316 Manitobans who lost their lives to COVID since this fall.
» Winnipeg Free Press
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