Law Bans Genetic Discrimination

Law Banning Genetic Discrimination Doesn't Apply To Some Insurers

TOPICS: INSURANCE, MARKETPLACE, PUBLIC HEALTH

JAN 18, 2013

NPR examines a key loophole in the law designed to keep health insurers from raising rates or denying coverage because of genetic issues. The law doesn't apply to life, disability or long-term-care insurance.

NPR: It's Legal For Some Insurers To Discriminate Based On Genes
There's a federal law that's supposed to protect people from having their own genes used against them, the Genetic Information Nondiscrimination Act, or GINA. Under GINA, it's illegal for an employer to fire someone based on his genes, and it's illegal for health insurers to raise rates or to deny coverage because of someone's genetic code. But the law has a loophole: It only applies to health insurance. It doesn't say anything about companies that sell life insurance, disability insurance or long-term-care insurance (Schultz, 1/17).

Meanwhile, a new study shows that people who offer their DNA for medical research may not be able to remain anonymous.

NPR: Anonymity In Genetic Research Can Be Fleeting
People who volunteer for medical research usually expect to remain anonymous. That includes people who donate their DNA for use in genetic studies. But now researchers have shown that in some cases, they can trace research subjects' DNA back to them with ease. And they say the risk of being identified from genetic information will only increase (LaCapra, 1/17).

Medpage Today: No Privacy Guarantee For Genomic Data
Supposedly anonymous individuals who have contributed their genomic information for research can sometimes be identified through free, publicly available Internet tools, researchers found. An effort to find the full names of 10 participants in a Utah-based genomic research project was successful for five of them, reported Yaniv Erlich, of the Whitehead Institute for Biomedical Research in Cambridge, Mass., and colleagues. In fact, the researchers said in a report in the Jan. 18 issue of Science, they were able to identify not only the participants but their entire families, a total of nearly 50 people -- relying entirely "on free, publicly available resources," they wrote (Gever, 1/17).

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Source: KHN: Kaiser Health News

Fast Genetic Test

Newborns may benefit from fast genetic test

Genome sequencing is rapidly changing modern medicine, and a new study shows its potential impact on seriously ill newborn babies.

New research published in the journal Science Translational Medicine this week makes the case for a two-day whole-genome sequencing for newborns in a neonatal intensive care unit (NICU).

After 50 hours, the test delivers to doctors a wealth of information about what could be causing newborns’ life-threatening illnesses. This would allow them to more efficiently and quickly tailor therapies to the babies, when possible, and identify problematic genetic variants that multiple family members may share.

“We think this is going to transform the world of neonatology, by allowing neonatologists to practice medicine that’s influenced by genomes,” said Stephen Kingsmore, the study's senior author and director for the Center for Pediatric Genomic Medicine at Children’s Mercy Hospitals and Clinics in Kansas City, Missouri, at a press conference Tuesday.

There are more than 3,500 diseases caused by a mutation in a single gene, Kingsmore said, and only about 500 have treatments. About one in 20 babies born in the United States annually gets admitted to a neonatal intensive care unit, he said. Genetic-driven illnesses are a leading cause of these admissions at Kingsmore’s hospital.

One example of how a genetic test would help newborns is a condition called severe Pompe disease, Kingsmore said. Children with this disorder die if they are not treated by age one.

They will live longer, at least four years, if they receive an enzyme replacement therapy.
The study shows how two software programs, called SAGA and RUNE, work together to help physicians pinpoint the genes that could be causing problems in the children. A company called Illumina developed a rapid genome sequencing device that incorporates the programs.
Researchers reported diagnoses as a result of this genetic test in the study for six children. Two of these tests were done retrospectively, after the children had died.

The test extends beyond the ill baby; genome sequencing can also identify genetic traits in multiple family members, the researchers said. Carol Saunders, the study's lead author, explained at the news conference how one baby and his 6-year-old brother both have a congenital heart defect and heterotaxy, meaning some internal organs are located on the wrong side of the body.

While some children will still die from incurable genetic disorders after being tested for them, the knowledge about diagnosis and likely outcomes for future children is beneficial for parents, experts say.

“Knowing the marker or defect may provide some information regarding the prognosis so the family knows what to expect,” Saunders said. "Importantly, it also allows them to have accurate genetic counseling regarding their risk to have another affected baby, and to make informed decisions about their reproductive future.”

Families value the diagnoses derived from this genetic test because it gives an answer, and alleviates guilt that something happened during pregnancy, Kingsmore said in an e-mail.
“It gives time for maternal bonding and saying goodbyes and last rites that can be planned,” Kingsmore said. “This is all complex but very real.”

The test costs roughly $13,500, but costs of whole-genome sequencing are quickly falling – experts believe a $1,000 genome sequence is not far off, Kingsmore said.
Children’s Mercy Hospital plans to offer this testing before the end of the year. Next year, Kingsmore and colleagues plans to offer testing at other hospitals for NICU patients.
Kingsmore estimates that about 5,000 babies a year could benefit from this technology.
“Ultimately, it will be used for every child with an illness that may be due to a genetic disease,” he said.It made sense to start with the NICU because of the costs involved, he said.

Source: CNN. Interesting note: This story appeared specifically on Fox News Latino. 

Multiracial DNA Sought

DNA study seeks origin of Appalachia's Melungeons

NASHVILLE, Tenn. –  For years, varied and sometimes wild claims have been made about the origins of a group of dark-skinned Appalachian residents once known derisively as the Melungeons. Some speculated they were descended from Portuguese explorers, or perhaps from Turkish slaves or Gypsies.

Now a new DNA study in the Journal of Genetic Genealogy attempts to separate truth from oral tradition and wishful thinking. The study found the truth to be somewhat less exotic: Genetic evidence shows that the families historically called Melungeons are the offspring of sub-Saharan African men and white women of northern or central European origin.
And that report, which was published in April in the peer-reviewed journal, doesn't sit comfortably with some people who claim Melungeon ancestry.

"There were a whole lot of people upset by this study," lead researcher Roberta Estes said. "They just knew they were Portuguese, or Native American."

Beginning in the early 1800s, or possibly before, the term Melungeon (meh-LUN'-jun) was applied as a slur to a group of about 40 families along the Tennessee-Virginia border. But it has since become a catch-all phrase for a number of groups of mysterious mixed-race ancestry.

In recent decades, interest in the origin of the Melungeons has risen dramatically with advances both in DNA research and in the advent of Internet resources that allow individuals to trace their ancestry without digging through dusty archives.

They conclude that as laws were put in place to penalize the mixing of races, the various family groups could only intermarry with each other, even migrating together from Virginia through the Carolinas before settling primarily in the mountains of East Tennessee.

Claims of Portuguese ancestry likely were a ruse they used in order to remain free and retain other privileges that came with being considered white, according to the study's authors.
The study quotes from an 1874 court case in Tennessee in which a Melungeon woman's inheritance was challenged. If Martha Simmerman were found to have African blood, she would lose the inheritance.

Her attorney, Lewis Shepherd, argued successfully that the Simmerman's family was descended from ancient Phoenicians who eventually migrated to Portugal and then to North America.

Writing about his argument in a memoir published years later, Shepherd stated, "Our Southern high-bred people will never tolerate on equal terms any person who is even remotely tainted with negro blood, but they do not make the same objection to other brown or dark-skinned people, like the Spanish, the Cubans, the Italians, etc."

In another lawsuit in 1855, Jacob Perkins, who is described as "an East Tennessean of a Melungeon family," sued a man who had accused him of having "negro blood."
In a note to his attorney, Perkins wrote why he felt the accusation was damaging. Writing in the era of slavery ahead of the Civil War, Perkins noted the racial discrimination of the age: "1st the words imply that we are liable to be indicted (equals) liable to be whipped (equals) liable to be fined ... "

Later generations came to believe some of the tales their ancestors wove out of necessity.
Jack Goins, who has researched Melungeon history for about 40 years and was the driving force behind the DNA study, said his distant relatives were listed as Portuguese on an 1880 census. Yet he was taken aback when he first had his DNA tested around 2000. Swabs taken from his cheeks collected the genetic material from saliva or skin cells and the sample was sent to a laboratory for identification.

"It surprised me so much when mine came up African that I had it done again," he said. "I had to have a second opinion. But it came back the same way. I had three done. They were all the same."

In order to conduct the larger DNA study, Goins and his fellow researchers — who are genealogists but not academics — had to define who was a Melungeon.
In recent years, it has become a catchall term for people of mixed-race ancestry and has been applied to about 200 communities in the eastern U.S. — from New York to Louisiana.
Among them were the Montauks, the Mantinecocks, Van Guilders, the Clappers, the Shinnecocks and others in New York. Pennsylvania had the Pools; North Carolina the Lumbees, Waccamaws and Haliwas and South Carolina the Redbones, Buckheads, Yellowhammers, Creels and others. In Louisiana, which somewhat resembled a Latin American nation with its racial mixing, there were Creoles of the Cane River region and the Redbones of western Louisiana, among others.

The latest DNA study limited participants to those whose families were called Melungeon in the historical records of the 1800s and early 1900s in and around Tennessee's Hawkins and Hancock Counties, on the Virginia border some 200 miles northeast of Nashville.
The study does not rule out the possibility of other races or ethnicities forming part of the Melungeon heritage, but none were detected among the 69 male lines and 8 female lines that were tested. Also, the study did not look for later racial mixing that might have occurred, for instance with Native Americans.

Goins estimates there must be several thousand descendants of the historical Melungeons alive today, but the study only examined unbroken male and female lines.

The origin of the word Melungeon is unknown, but there is no doubt it was considered a slur by white residents in Appalachia who suspected the families of being mixed race.

"It's sometimes embarrassing to see the lengths your ancestors went to hide their African heritage, but look at the consequences" said Wayne Winkler, past president of the Melungeon Heritage Association. "They suffered anyway because of the suspicion."

The DNA study is ongoing as researchers continue to locate additional Melungeon descendants.

Source: Associated Press
Associated Press Writer Cain Burdeau contributed to this story from New Orleans, La.

Read more: http://www.foxnews.com/us/2012/05/24/dna-study-seeks-origin-appalachia-melungeons/print#ixzz1vtT9noNe