Born in the U.S.A.
3,978,497
is the annual number of births.
26.4 years
is the mean maternal age at first birth.
2,703,504
is the annual number of vaginal deliveries.
1,272,503
is the annual number of Cesarean deliveries.
32 percent
is the prevalence of Cesarean deliveries.
133,155
is the annual number of twin births.
3,871
is the annual number of triplet births.
228
is the annual number of quadruplet births.
9.6 percent
is the prevalence of infantsborn pre-term.
8.1 percent
is the prevalence of infants born with low birth weight.
31
is the number of primary conditions that The Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC) recommends be part of all newborn screening programs.
26
is the number of secondary conditions that DACHDNC recommends be part of all
newborn screening programs.
99.9 percent
is the prevalence of newborn screening program participation reported by most states.
Sources:https://www.cdc.gov/nchs/fastats/births.htm, https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/pages/disorders.aspx, and https://www.nichd.nih.gov/health/topics/newborn/conditioninfo/pages/infants-screened.aspx
Genetics/Genomics
NIH accelerates the use of genomics in clinical care. The National Institutes of Health (NIH) is awarding $18.9 million toward research that aims to accelerate the use of genome sequencing in clinical care. The new awards will generate innovative approaches and best practices to ensure that the effectiveness of genomic medicine can be applied to all individuals and groups, including diverse and underserved populations, and in healthcare settings that extend beyond academic medical centers.
The research is being funded as part of the Clinical Sequencing Evidence-Generating Research (CSER2) Consortium. CSER2 builds upon the Clinical Sequencing Exploratory Research (CSER) Consortium, initiated in 2010 and funded by the National Human Genome Research Institute (NHGRI) and the National Cancer Institute (NCI), both part of the NIH. The new grants will support the development of methods needed to integrate genome sequencing into the practice of medicine, improve the discovery and interpretation of genomic variants, and investigate the impact of genome sequencing on healthcare outcomes.
With this new round of funding, CSER2 investigators will continue the effort to generate evidence for the usefulness of genome sequencing in clinical care, but with a particular focus on diverse and underserved groups. To that end, NHGRI and NCI have partnered with the National Institute on Minority Health and Health Disparities (NIMHD) to improve processes for recruiting and retaining patients to participate in research from diverse racial and ethnic groups, as well as from currently understudied clinical healthcare settings where genomic medicine could potentially be put into practice.
The 16 genetic markers that can reduce life span. Why do some of us live longer than others? While the environment in which we live, including our socio-economic status and the food we eat, plays the biggest part, about 20 percent to 30 percent of the variation in human life span comes down to our genome. Changes in particular locations in our DNA sequence, such as single-nucleotide polymorphisms (SNPs), could therefore hold some of the keys to our longevity.
In a new study, a team of scientists, led by Prof. Zoltan Kutalik, Group Leader at Swiss Institute of Bioinformatics (SIB), has used an innovative computational approach to analyze a dataset of 116,279 individuals and probe 2.3 million human SNPs.
An unparalleled number of SNPs associated with lifespan were uncovered, including 14 new to science. The researchers prioritized changes in the DNA known to be linked to age-related diseases in order to scan the genome more efficiently. This is the largest set of lifespan-associated genetic markers ever uncovered.
About one in 10 people carry some configurations of these markers that shorten their life by over a year compared with the population average. In addition, a person inheriting a lifespan-shortening version of one of these SNPs may die up to seven months earlier.
The approach also enabled the researchers to explore how the DNA changes affected lifespan in a holistic way. They found that most SNPs had an effect on lifespan by impacting more than a single disease or risk factor, for example through being more addicted to smoking as well as through being predisposed to schizophrenia.
The discovered SNPs, combined with gene expression data, allowed the researchers to identify that lower brain expression of three genes neighboring the SNPs (RBM6, SULT1A1 and CHRNA5, involved in nicotine dependence) was causally linked to increased lifespan.
These three genes could therefore act as biomarkers of longevity, i.e., survival beyond 85-100 years. Their findings reveal shared molecular mechanisms between human and model organisms, which will be explored in more depth in the future.
Immunotherapy
Immune cells are key to better allergy, infection therapies. By learning how a recently discovered immune cell works in the body, researchers hope to one day harness the cells to better treat allergies and infections, according to new Cornell University research.
Type 1 regulatory (Tr1) cells are a type of regulatory immune cell that helps suppress immune responses, including inflammation and tissue damage, but very few details had been known about their development and function.
A new study with mice and humans, published in Nature Communications, describes how an enzyme called ITK plays a crucial role in the development of Tr1 cells during an immune response. The enzyme offers an entry point for researchers to manipulate the development of Tr1 cells to enhance them to treat allergies, for instance, or block their development to treat viral and bacterial infections.
Doctors employ antigen immunotherapy to treat allergies by administering a regimen that exposes a patient to increasing doses of an allergen over a period of months. Since allergies are caused by an overactive immune response to an allergen, the treatment works because Tr1 cells help suppress the immune system and lower inflammation. In the future, clinicians may want to enhance the pathway to produce more Tr1 cells.
When treating viral infections such as the flu, bacterial infections and tumors, however, clinicians may want to selectively block the pathway to lower the number of Tr1 cells. In experiments with mice, researchers found that Tr1 cells increase when a mouse is infected with viruses or bacteria or when fighting tumors. Tempering the development of Tr1 cells and carefully reducing their activity to suppress the immune response may help patients to recover faster from certain diseases.
The danger with flu, for example, is that at a certain point other types of immune system T cells, whose purpose is to kill infected cells, start to destroy tissue. In such cases, an overactive immune response can lead to death.
National Cancer Institute (NCI) study identifies essential genes for cancer immunotherapy. A new study identifies genes that are necessary in cancer cells for immunotherapy to work, addressing the problem of why some tumors don’t respond to immunotherapy or respond initially but then stop as tumor cells develop resistance to therapy.
Cancer immunotherapy relies on T cells, a type of cell in the immune system, to destroy tumors. Researchers have previously shown that the infusion of large numbers of T cells can trigger complete regression of cancer in patients and that T cells can directly recognize and kill tumor cells.
However, some tumor cells are resistant to the destruction unleashed by T cells. To investigate the basis for this resistance, NCI researchers sought to identify the genes in cancer cells that are necessary for them to be killed by T cells. Working with a melanoma tumor cell line, the researchers used a gene editing technology called CRISPR that “knocks out,” or stops the expression, of individual genes in cancer cells. By knocking out every known protein-encoding gene in the human genome and then testing the ability of the gene-modified melanoma cells to respond to T cells, they found more than 100 genes that may play a role in facilitating tumor destruction by T cells.
Once the team identified these “candidate” genes, they sought additional evidence that these genes play a role in susceptibility to T cell-mediated killing. To this end, they examined data on “cytolytic activity,” or a genetic profile that shows cancer cells are responding to T cells, in more than 11,000 patient tumors from The Cancer Genome Atlas, a collaboration between NCI and the National Human Genome Research Institute. They found that a number of the genes identified in the CRISPR screen as being necessary for tumor cells to respond to T cells were indeed associated with tumor cytolytic activity in patient samples.
One such gene is called APLNR. The product of this gene is a protein called the apelin receptor. Investigation of tumors from patients resistant to immunotherapies showed that the apelin receptor protein was nonfunctional in some of them, indicating that the loss of this protein may limit the response to immunotherapy.
Infectious Disease
Natural compound coupled with specific gut microbes may prevent severe flu. Microbes that live in the gut don’t just digest food. They also have far-reaching effects on the immune system. Now, a new study shows that a particular gut microbe can prevent severe flu infections in mice, likely by breaking down naturally occurring compounds, called flavonoids, commonly found in foods such as black tea, red wine, and blueberries.
The research, conducted in mice by scientists at Washington University School of Medicine and published in Science, also indicates that this strategy is effective in staving off severe damage from flu when the interaction occurs prior to infection with the influenza virus. This work also could help explain the wide variation in human responses to influenza infection.
Previous evidence suggests that the gut microbiome may be important in protecting against severe influenza infections, so, in this study, the researchers aimed to identify just what gut microbes might provide that protection. In addition, for years, nutritionists have explored potential health benefits linked to foods loaded with flavonoids.
“It’s not only having a diet rich in flavonoids; our results show you also need the right microbes in the intestine to use those flavonoids to control the immune response,” says senior author Thaddeus S. Stappenbeck, MD, PhD. We were able to identify at least one type of bacteria that uses these dietary compounds to boost interferon, a signaling molecule that aids the immune response. This prevented influenza-related lung damage in the mice. It is this kind of damage that often causes significant complications such as pneumonia in people.”
As part of the study, the researchers screened human gut microbes, looking for one that metabolized flavonoids. They identified one such microbe that they suspected might protect against flu damage. The microbe, called Clostridium orbiscindens, degrades flavonoids to produce a metabolite that enhances interferon signaling.
Pregnancy/Prenatal
Early-term babies are at greater risk for diabetes and obesity-related diseases. Early-term deliveries impact babies’ long-term health, with increased risk of diabetes and obesity-related illnesses as well as a shortened life span, according to a new study by Ben-Gurion University of the Negev (BGU) researchers.
“Early-term” is defined as delivery between 37 and 39 weeks. Pregnancy is considered at full term when gestation has lasted between 37 and 42 weeks. Babies born between 39 and 41 weeks of gestation have better outcomes than those born either before or afterward.
In the study, published in the American Journal of Obstetrics and Gynecology, the researchers investigated hospitalizations of children up to age 18 to determine the impact that early-term versus full-term gestation had on pediatric health and hospitalizations. A population-based cohort analysis was conducted of 54,073 early-term deliveries and 171,000 full-term deliveries.
“We found that hospitalizations up to the age of 18 involving endocrine and metabolic morbidity were found to be more common in the early-term group as compared with the full-term group, especially at ages five and older,” says Prof. Eyal Sheiner, MD, PhD. What’s more, “obesity was significantly more frequent among the early term.”
The researchers also discovered that children older than five exhibited significantly higher rates of type I diabetes mellitus when born early term.
“Pregnancies ending at early term were more likely to be complicated by hypertensive disorders and maternal diabetes (both gestational and pre-gestational). Deliveries were more often cesarean, and mean birthweight was significantly lower” Sheiner says. “Babies delivered at early term were also more likely to be low birthweight—less than 5.5 pounds.”
These diseases may increase the likelihood of other associated maladies with a detrimental long-term impact on health and well-being, increased lifetime healthcare expenditures, and a shorter life span, the researchers conclude.
Kidney Disease
More than 26 million Americans have chronic kidney disease (CKD). Primary care physicians who take care of these patients can help reduce the risk of complications and death if they recognize the progression of kidney failure early, but this is often difficult to do; deterioration can be rapid and more than one laboratory test may be needed to accurately predict a patient’s risk. However, a new electronic health record (EHR) tool could help physicians quickly and accurately flag patients that should be referred to a nephrologist.
Designed by Brigham and Women’s Hospital investigators, this tool draws upon recent research that has identified several tests that can be used to calculate an individual’s risk score. Now, an automatic calculator can be built into EHRs and displayed prominently for a physician to see when they open a patient’s record. The tool was piloted at ten North Shore Physicians Group clinics this year, and a paper detailing the design and implementation of the application appear online in The Journal of the American Medical Informatics Association.
The new clinical decision support tool calculates and displays kidney failure risk based on criteria identified from a large cohort study conducted by Canadian researchers. Predictive risk factors that go into the calculation include serum and urine tests that collected during routine care. If test results for any of these predictive measures have not been collected and are not in a patient’s record at the time of a visit, the tool will display a recommendation to order the tests. Otherwise, the tool will display a five-year kidney disease risk score, and if the risk is high, a recommendation for a referral to a nephrologist.
The tool was deployed outside of the EHR in a way that would allow it to be used with different EHRs by utilizing interoperability standards called continuity of care documents (CCDs). The tool extracted the necessary tests from this interoperable document.