The UK is set to begin sequencing the genomes of 100,000 newborn babies later this year. It will be the largest study of its kind, mapping the babies’ complete set of genetic instructions, with potentially profound implications for child medicine.
The £105 million ($126 million) Newborn Genomes Programme will screen for around 200 rare but treatable genetic conditions, with the aim of curtailing untold pain and anxiety for babies and their families, who sometimes struggle to receive a diagnosis through conventional testing. By accelerating the diagnostic process, earlier treatment of infants could prevent many severe conditions from ever developing.
The study would see roughly one in 12 newborn babies in England screened on a voluntary basis over two years. It will operate as an extension of current newborn testing, with the findings intended to inform policymakers, who could pave the way for sequencing to become more commonplace.
Nevertheless, the project has raised many longstanding ethical questions around genetics, consent, data privacy, and priorities within infant healthcare.
The health game-changers of the last 500 years
In the UK, like many other countries, newborn babies are screened for a number of treatable conditions through a small blood spot sample. Also known as the heel prick test,…
LOUISVILLE, Ky. (WDRB) — Using advanced DNA testing, investigators now have a big answer they’ve been searching for for more than three decades in an unsolved case.
According to Kentucky State Police, the KSP Forensic Lab partnered with a private company called Othram to use advanced DNA technology to establish the identify of a victim previously known as “Jane Doe.”
That woman is now identified as Linda Bennett, recovered along a roadside in rural Owen County, Kentucky, more than 30 years ago.
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A woman found dead on Cape Cod, Massachusetts in 1974 has been identified nearly 50 years later using “investigative genealogy,” Special Agent in Charge of the FBI Boston Division Joseph R. Bonavolonta announced Monday.
Previously dubbed the “Lady of the Dunes” due to her being found in the sand dunes in Provincetown, authorities identified her as Ruth Marie Terry, 37. Prior to her identification, she was the oldest unidentified homicide victim in the state of Massachusetts, Bonavolonta said.
Assistant Massachusetts U.S. Attorney Josh Levy called Monday’s announcement the “product of tireless and exceptional police work and work by law enforcement.”
The use of investigative genealogy by law enforcement combines the use of DNA analysis with “traditional genealogy research and historical records to generate investigative leads for unsolved violent crimes,” Bonavolonta said.
Terry was found on July 26, 1974. Her cause of death was determined at the time to be a blow to the head, several weeks prior, Bonavolonta said. Her hands were missing from her body and her head was “nearly severed,” he added.
The FBI Boston Field Office said in a news release Terry’s hands were “presumably removed by the killer so she could not be identified through fingerprints.”
Bonavolonta, who was joined at a news…
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After a well-deserved break, the dolphin study team on board the Dolphin Explorer was back on the waters surrounding Marco Island on Monday, September 19th and they were looking for something very special…baby dolphins! This is the primary birthing season in this area and there was no disappointment in the team’s findings.
Although no new calves were seen on the 19th or 20th, Thursday September 22nd produced the much anticipated sighting! The team has a list of females that are potentials to give birth this fall and, near the top of the list is a young lady named Orange. This female raised a calf named Swoop for nearly four years and Swoop just left mom’s side in early August, a strong indication that mom Orange might be pregnant. It was a matter of time before a new calf was expected and, on the 22nd, at the entrance to Collier Creek, we saw several dolphins swimming toward shallow water.
Almost immediately the crew noticed a small, dark figure next to one of the dolphins and it was, indeed, a…
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A ruling from the Mississippi Supreme Court found that additional DNA testing will not be able to be presented in a 30-year-old murder case of two college students, the Associated Press reports. In 1994, Willie Jerome Manning was convicted of two counts of capital murder in the December 1992 killings of Mississippi State University students Jon Steckler and Tiffany Miller in Oktibbeha County.
Before Manning was about to be executed in 2013, the Justice Department stated there were errors in the FBI’s findings concerning ballistics tests and hair analysis in the case. Notably, the FBI pointed out that the microscopic hair samples found in a car belonging to one of the victims had “errors in testimony” in court. As the Associated Press points out, an FBI agent testified that some hair found at the crime scene was “from an individual of the Black race,” but didn’t necessarily mean the same hair came from Manning.
Just hours before the lethal injection was about to be carried out, the Mississippi Supreme Court issued an indefinite delay by an 8-1 vote to allow the new evidence to come forth. Manning’s attorneys sent a rape kit, fingernail scrapings, and other items to a laboratory.
After six long years of analysis and Manning expressing his innocence, Misssissippi’s justices said that Manning received “allegedly inconclusive results.” Manning’s attorneys…
The Palm Beach County Sheriff’s Office has identified human remains that were found nearly 50 years ago with the help of genealogy testing.
During a news conference Thursday, Detective Bill Springer announced that the remains found in June of 1974 belong to 15-year-old Susan Gale Poole who went missing in Broward County just before Christmas in 1972.
Poole’s remains were identified following genealogy testing by Othram Labs, a private forensic laboratory that utilizes genome sequencing to build DNA profiles, according to Springer.
Late last year, Othram Labs contacted the Palm Beach County Sheriff’s Office about performing genealogy testing on cold cases.
“It was decided by the sheriff’s office and my supervisors that we would send up the unknown remains of the girl from 1974,” Springer said. “Thanks to Othram, they were able to identify her and build a profile.”
Scientists used that DNA profile to identify Poole’s mother and siblings. Poole’s mother is still alive and in her 90s.
Why your DNA may be solving cold cases
Poole was born on February 12, 1957. At the time of her disappearance, Poole lived with her family at a Fort Lauderdale trailer park, according to the PBSO. Poole was also staying at a friend’s apartment in Wilton Manors at the time.
Springer says Poole’s skeletal remains were found tied up in the mangroves of an area formerly known as “Burnt Bridges” along A1A in Palm Beach County.
Oxford Nanopore Technologies ,
which listed on the London market eight months ago, produces Covid-19 technology to identify new variants, but its expertise in testing DNA and analyzing data is where its growth lays.
Its technology, with more than 2,000 patents, could disrupt the sequencing market, and is superior to rivals because of the combination of its portability, ability to process real-time data, and skill in reading ultralong DNA fragments. Potential applications stretch far beyond healthcare, and span agriculture, epidemiology, industry, and education.
The markets in which its tech can be used are worth a combined $300 billion long term, Odysseas Manesiotis, an analyst at Berenberg, wrote in a note. But shares (ticker: ONT.UK) in the Oxford, United Kingdom–based company have slumped since it made its debut at 4.25 pounds sterling ($5.55) in September. At a recent £3.23, the stock has been dragged down with its peers as investors rotated from growth stocks to value.
Despite posting a loss in 2021, Oxford Nanopore has raised revenue guidance three times, most recently to a range of £145 million to £160 million. That’s up from £135 million to £145 million, and in line with an estimate of £151 million by RBC Capital Markets.
The dip in the share price means that Oxford Nanopore could be a buying opportunity. David Westenberg, an analyst at Piper Sandler, estimates that the stock could rise to £7.50 because of increased adoption of its tech.
“Potential near-term applications include infectious-disease testing, rare-disease diagnosis, and microbiology,’’ he says. “We estimate these ‘niche’ markets have current addressable markets of more than $1 billion.”
The company, which was spun out of the University of Oxford, has a market value of £2.6 billion and employs about 850 people. It posted a loss of £167.6 million for 2021, deeper than the £61.2 million loss in 2020. Revenue in 2021 was £133.7 million, better than the £113.9 million posted in 2020.
CEO Gordon Sanghera told Barron’s in a statement that “we deploy a powerful innovation engine in our R&D teams to constantly evolve our technology. This helps expand our user base. For example, experts in human genetics and cancer are increasingly using our sequencing platform to gain a more comprehensive picture of those genomes.”
Oxford Nanopore could be well placed to benefit from increased spending by governments that are conducting projects to map the human genome so that Big Data can be used to analyze trends in diseases to plot care and cures.
Stefan Hamill, an analyst at Numis, wrote in a note that governments are expanding their research-and-development spending faster than gross domestic product to build knowledge industries, “despite expected pressure on fiscal balance sheets, with many population genomics programs under way.”
Berenberg’s Manesiotis believes that increasing academic and clinical adoption of Oxford Nanopore’s tech will support about a 30% increase in sales from 2021 to 2026 in terms of a compound annual growth rate. The crunching of data extends into a raft of areas.
Advances in collecting samples from humans, plants, and animals using affordable portable and benchtop devices that analyze information in real time have applications for food safety, animal conservation, and the development of pest-resistant crops. The technology can also help with monitoring the impact of climate change, as researchers use it to characterize microbial diversity and microbiome samples. Its technology is also used in cancer research.
Genetics testing has confirmed that an 11.07-pound black bass caught on Feb. 22 at Lake O.H. Ivie by Brady Stanford, of Midland, is an F1-hybrid of a smallmouth bass crossed with a largemouth bass. The DNA testing was carried out at the Texas Parks & Wildlife Department’s Analytical Services Laboratory in San Marcos by Dijar Lutz-Carrillo, TPWD geneticist and senior scientist.
Stanford’s fish is the largest of its kind ever reported in the world. The angler has submitted an application to the International Game Fish Association for consideration as a new world record smallmouth/largemouth hybrid.
The global home genetic testing kit market is expected to surpass US$ 10 Billion by 2028.
The report covers a detailed study of home genetic testing kit market size, growth and share, trends, consumption, segments, application, and forecast till 2028. In addition to this, the report also provides comprehensive analysis on the availability of home genetic testing kits across various geographical regions along with their commercial information.
Home DNA Test Kit Market Opportunity Forecast 2028 Report Highlights:
Global Home DNA Test Kit Market Opportunity > USD 10 Billion
US Dominating Global DNA Test Kit Market > 20%
Kits Availability & Price Analysis by Company, Country & Indication
Global Home Genetic Testing Kit Market by Application: Ancestry, Nutrigenomics, Parenting, Chronic Diseases
Global Home Genetic Testing Kit Market by Country: US, UK, china, India, Japan, South Korea, Taiwan, Singapore, Malaysia, Turkey, Russia, Canada, Middle East, Australia
Global & Regional Market Forecast Till 2028
In last few decades, the field of genetics has witnessed rapid evolution which has eventually led to the development of genetic tests. In recent times, home genetic testing kits have entered the market which can be done at home without the prescription of healthcare professional.
The introduction of home genetic testing kit has empowered people and gave them a feeling of personal control in improving the quality of their lives. It allows the rapid diagnosis of disorders when public or other private healthcare resources are in short supply. Till date, several home genetic testing kits have entered the global market which provides insights on various things including genetic disease risk analysis, personal wellbeing, ancestry, diet, nutrition, parenting, and others.
One of the early players in home genetic testing kit market is 23andMe which has been known for its at-home DNA testing kit that only requires customers to mail in a little tube of saliva in order to gain useful insight into their genetic predispositions.
Other private companies that are pushing the innovation edge and warrant watching include companies like Forward, which is a subscription-based service that combines DNA sequencing, AI, full-body scanning, and wearable’s for mobile health monitoring along with instant access to medical care via smartphone app. The other key players in the market include Everlywell, Ancestry, MapmyGenome, EasyDNA, MedGenome, DNAwise, DNA labs, Genes2me, and others.
Further, the arrival of COVID-19 pandemic has also pushed the home test kits market during the past two years. The rising COVID-19 cases globally have encouraged several pharmaceutical companies to develop cost-effective and easily available kit for diagnosis of the virus.
In November 2020, Lucira COVID-19 All-In-One Test Kit was the first COVID-19 diagnostic kit for self-testing at home and that provides rapid results. More recently in October 2021, FDA issued EUA for the Acon Laboratories Flowflex COVID-19 home test, which is an over-the-counter antigen test.
Cancer has a major impact on society across the world. It is one of the leading causes of death across the globe and is more prevalent in developed and emerging markets. On the basis of application, cancer diagnostic home genetic testing kits occupy the major share in the market.
The rise in geriatric population and subsequent increase in the prevalence of cancer will drive the segment during the forthcoming years. In addition, initiatives by government and other organizations to spread cancer awareness and surge in number of home genetic cancer testing kits in developed countries will also boost the growth of market during forthcoming years.
In last few years, there have been rising collaborations, partnerships, and strategic alliances among pharmaceutical companies in global home genetic testing kit market. For instance, Myriad Genetics announced strategic collaboration with Illumina for Illumina to create a kit based version of the myChoice diagnostic test for international markets.
The agreement between the companies combines companion diagnostics and next generation sequencing to advance comprehensive genomic profiling of tumor samples and improved outcomes in oncology. In addition to this, South Korea’s leading mobile carrier SK Telecom has collaborated with Macrogen to develop artificial intelligence backed genome analysis solution. Under this agreement, SK Telecom plans to set up system that analyzes, cumulates, and manages genomic data and medical information owned by Macrogen using artificial intelligence.
1. Introduction to Home Genetic Testing Kits
1.2 Historical Perspective
2. Home Genetic Testing Kits Availability & Price Analysis by Company, Country & Indication
3. Global Home Genetic Testing Kit Market
3.1 Ongoing Trends Boosting Growth of Market
3.2 Market Acceptability Size & Volume
4. Global Home Genetic Testing Kit Market by Application
5. US Home Genetic Testing Kits Market
5.1 Current Market Trends
5.2 Market Acceptability Size & Volume
5.3 Market by Product Applications
6. India Home Genetic Testing Kits Market
6.1 Ongoing Market Trends
6.2 Market Acceptability Size & Volume
7. UK Home Genetic Testing Kits Market
7.1 Ongoing Market Trends
7.2 Market Acceptability Size & Volume
8. China Home Genetic Testing Kits Market
8.1 Current Market Trends
8.2 Market Acceptability Size & Volume
9. Japan Home Genetic Testing Kit Market
9.1 Current Market Trends
9.2 Market Acceptability Size & Volume
10. South Korea Home Genetic Testing Kit Market
10.1 Current Market Trends
10.2 Market Acceptability Size & Volume
11. Europe Home Genetic Testing Kit Market by Countries
A fishing tournament hosted on Saturday, Apr. 2 by the Eastern Kentucky Tournament Trail was also the launch study into the genetics of bass in Paintsville Lake aimed at improving the quality of fish in the lake, according to a statement from EKYTT Boardmember Jason Kinner.
Kinner said representatives from Major League Fishing administered the genetic tests.
According to Kinner, there is evidence that there has long been a portion of the lake’s largemouth bass that contain genetics from Florida, which is different from that of the predominant species in our region’s lakes, the Northern Largemouth Bass and has been known to hybridize with the Florida Largemouth Bass, creating a species referred to by sport fisherman as the F1.
“A group of volunteers spent hours today diligently collecting length, girth, weight and a swab sample from the tongue of each bass weighed in today on EKYTT,” Kinner said. “Our goal was to collect 50 DNA samples today. 54 boats (more than 100 guys) showed up in 27 degree blast off temperatures. A bunch of guys who care about improving our local fishing opportunities. We sampled 97 fish. Our hope is to establish a baseline for Florida genetics already present in our local lakes. Studies continue to prove that increasing the percentage of Florida Largemouth genetics could potentially improve the quality of catch in Paintsville Lake.”
There is evidence that supports Kinner and the rest of EKYTT’s claim that the lake might already contain that DNA, according to Kinner.
“We are affecting positive change in our community, we are using science to prove our theory. We have conducted extensive research and spoken to biologists across the country,” Kinner said. “Just this week we discovered that the Kentucky Department of Fish and Wildlife Reserves had data from 1988 through 1991 and around 2000 that confirmed the existing presence of Florida genetics in resorvoirs in KY, with a higher percentage in riverine data. We found that the state had broodstocks in hatcheries tainted with Florida Largemount Bass genetics, so we are not proposing to introduce something new, the genetics are here, we just want to jumpstart them again.”
The plan would see the lake’s existing bass population bolstered by the already hybrid F1s, which Kinner said would improve the fishing at the lake and provide a real benefit to the local economy. Kinner said the event featured 54 boats carrying more than 100 anglers and Rob McCann, an AP Environmental Science teacher from Harrison County High School came to help with the genetic testing, alongside other biologists from around the country.
McCann said the F1s they planned to introduce were more aggressive and grow faster than the Northern Largemouth variety, which was helpful in many ways, including keeping pest fish populations down and being at a fishable size much sooner.
“It grows two to two and a half pounds a year, so you’re looking at a five-pound bass in two years, which is pretty cool. I think every kid’s dream is to hook a five-pound bass,” McCann said.
According to Kinner, if the project can establish a baseline of just 5 percent of the existing bass in the lake to be Florida Largemouth Bass, then the fishery can be supplemented with those F1s to bring those genetics up to 50-percent and effect the sort of positive change EKYTT is looking for, after being told in January that introducing these types of fish wasn’t a viable plan for the lake.
“We were told in January that we could not risk introducing new genetic material in to our pure northern population,” Kinner said. “Our theory, based on the research in other states, Tennessee, Virginia, North Carolina and Kansas was that we do not have a pure northern population. To the surprise of the states mentioned they found no pure northern populations in their states and we assumed the same to be true here.
“This far north we cannot stock pure Floridas — studies have shown a 48 percent mortality rate, but some make it and did to taint these populations,” Kinner said. “Largemouth Bass are the most sought after game fish in North America, currently billions of dollars are being spent in efforts across the country to grow state record and potential world record bass due to the return on investment. Currently in Eastern Kentucky, Tourism is one of the quickest ways for us to create economic impact. We have the lakes, we just need to stock the fish. Currently American Sportfish and other hatcheries are creating an F1 which is 50 percent FLMB/50 percent NLMB.”
According to Kinner, these fish have been selectively bred for fast growth (potentially 2 pounds per year) and aggressiveness. Smith Mountain Lake is very comparable to Paintsville Lake geographically and in terms of climate. SML is experiencing amazing results after stocking F1s and running the lake that 50/50 ratio, growth rates that are 80 percent larger. Of the 97 fish sampled Saturday at Paintsville, only one was more than four pounds — but that could change drastically with this project if successful, much as it has at Smith Mountain, where the percentage of fish exceeding that weight jumped from two percent to more than 13 percent after a similar project was done.
“If this works, it can be a gamechanger for small East KY man made impoundments,” Kinner said. “I served on a steering committee and an overwhelming majority of Johnson County residents support improvements to Paintsville Lake.”
Major League Fishing Fisheries Biologist Steven Bardin said the project was a major step forward for efforts such as these around the nation, which will see local fisherman take ownership over their conservation efforts and stewardship of their local fisheries.
“For MLF Fisheries Management Division, the Paintsville Lake DNA collection projects represents a monumental step in angler driven stewardship and conservation efforts,” Bardin said. “Small impoundments like Paintsville offer unique challenges because their size allows environmental changes to quickly impact recreational opportunity. Their size also offers unique opportunities for success as communities can scale up projects that will show a positive result. The MLF-FMD sees this project as a blue print for numerous projects across the nation.”
Kinner offered thanks for the combined help of so many local fishing enthusiasts that helped make the event possible and protect the fish that were used for the sample collection.
“Thanks to Ethan Pelphrey, Rick Daniel, Bryan Frazier and Chris Ferguson. They took every precaution to ensure fish care and handling of fish and releasing. They brought some of the Casting for Kids equipment to care for and maintain fish. Thank you guys so much,” Kinner said, also giving thanks for the help of the biologists that are throwing their hats in on the study. “I also have to give a huge shoutout to Aquatic Biologist Sarah Parvin for sharing their research and in being an inspiration by doing so. Aaron Fewell has been a stump of knowledge and we can’t thank him enough for his time and expertise. Guys like Aaron love what they do, and their passion and willingness to listen to our circumstances can never be appreciated enough. I have found biologists across the country to be an awesome group, they are energetic and willing to help.”
Kinner said that the tournament was a huge step forward for Eastern Kentucky anglers.