Country doctor James DeLine talks about his work with the Amish

In 33 years at the La Farge clinic, Dr. James DeLine has gained the trust of many Amish. He understands their beliefs and their financial limitations, and he leaves the medical decisions to the families.

Mark Hoffman, Milwaukee Journal Sentinel

MILWAUKEE, Wis.It is 5 degrees below zeroand a light powdering ofsnow swirls across the roads of Vernon County.Afew horses and buggies clop through the chillmorningair, but Perry Hochstetler leaves his buggy at the family farmand has a driver take him to his doctors appointment.

TheHochstetlersare Amish. With no health insuranceanda modest income, they cannot afford most doctors.

They can afford James DeLine, once the lone doctor in the western Wisconsin village of LaFarge. Population 750.

When he became the village doctor in 1983, DeLine had no experience treating the Amish and no idea the crucial role they would play in his work. Today, about 20% of the doctors patients are Amish or Old Order Mennonite, part of a Christian population called Plain People. They are known for their separation from the modern world and adherence to a simple lifestyle and unadorned dress.

Something of a throwback himself,DeLine, 65, is a short,bespectacledman with a walrus mustache, a doctor who carries a brown medical bag to house calls. For years, he carried his equipment in a fishing tackle box.

He knows the families on every local farm and their medical histories. He knows whos beenborn,andcalls on the mothers and infants to make sure they are healthy. He knows whos dying, and looks in on them in their final days, sitting by their bedside, talking in a gentle voice, making sure they have what they need for pain.

Amish farms are clustered together along Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

As a young doctor,DeLine never imagined he would find himselfsomedaywith one foot planted solidly in medicines past, the other in its future.

The doctor who makes housecallsalso collaborates with English and American geneticists studying some of the rarest diseases on Earth. Some occur at much higher levels among the Amish, Mennonites and other closed communities that dont allow marriage to outsiders. This prohibition increases the likelihood that when a rare, disease-causing mutation appears in the community, it will take root and pass from generation to generation.

It has taken DeLine and his staff years to gain the trust of Plain People, some of whom are wary of medicine and technology.Often,theyfear that going to a hospital or clinic will mean surrendering the decision-making to doctors who neither respect their beliefsnor understand their financial limitations.

DeLine, not a religious man himself, accommodates the beliefs of patients and parents; he has always viewed them as the ultimate decision-makers.

At first glance, Hochstetler seems an unlikely candidate for a rare disease or a health problem of any kind. Work at the local sawmill and his family farm has given the 26-year-old father of two a lean muscular frame. Beneath the skin lies another story.

He has the vasculature of an 80-year-old smoker,DeLinesays.

He inherited the genetic mutation that causes an illness most people have never heard of: sitosterolemia. Only 100 cases have been described in the medical literature, but DeLine has 13 patients with the condition, including four of Hochstetlers 10 siblings and their father.

The disease prevents the body from getting rid of lipids from vegetable oils and nuts, causing them to build up and clog the arteries.

Since diagnosing the disease,DeLinehas treated Hochstetler with a cholesterol-lowering drug called Zetia.

Without diagnosis and treatment,Hochstetlercould by now havesuffereda heart attack, a trauma that Zetia should delay, thoughfor how long isuncertain. There is no cure for sitosterolemia.

Im not afraid, he says. If I die young, I guess Im going to die young. I cant do much about it. I cant say I ever get low and have the blues about it.

Saving grace: The story of an Amish community and the fight for their children's lives

A blizzard almost kept the doctor and village from their appointment.

It was February 1983. DeLine drovehis familyover hilly country roads, staring out the windshield into flurries and fearingtheir carmight not makeit to LaFarge.

DeLinehad just completed his residency at the Wausau Hospital Center. Now, a10-membercommitteeof localswas recruiting him to fill LaFargesvacancy for a doctor. Thevillage had beenwithout one for a couple ofyears.

The doctor liked the friendly villagers, a welcome change from the suit-and-tie types hed interviewed with in other places.

He was 28 years oldwith a bad car, a growing family and $30,000 in unpaid student loans. The average salary for a family doctor in America was then around $80,000, enough to settle down and beginpaying offhis debt.

But the people of LaFargewantedDeLine needed him. Their offer: $20,000.

That would have to coverDeLinesannual salary, the salary of an assistant to answer the phones and handle billing, plus all the clinic equipment andexpenses. .

DeLine took the offer.

The photo of country doctor Ernest Guy Ceriani, made famous in a groundbreaking Life Magazine photo essay by W. Eugene Smith, hangs on James DeLine's refrigerator door at his home in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

DeLinegrew up in New Lenox, Illinois, a farming community outside Joliet.

The village of 1,750 was mostly cornfields. DeLine remembers it asthe kind of place where children grew up building forts during the day and watching bonfires at night. DeLine had twin sisters five years younger than him. Their father owned a restaurant.

From an early age, though, itjust seemed like Id be going to medical school. It was meant to be.

DeLineremembers nights when he could hear his mother struggling to breathe. He could hear his father, too, trying to persuade her to go to the hospital.

She had rheumatic heart disease and took blood thinners starting in her 30s. She sometimes joked about needing a valve job.

DeLinewas 17 when his mother went in for the procedure.

He saw her once after surgerybut I didnt like how she looked.About the third day, his mother suffered cardiac arrest. She was resuscitated but had sustained a severe brain injury. Days later, the family shut off life support. She was 42.

One week after her death, JamesDeLineset out to become a doctor,leavinghome for the University of Illinois in Urbana-Champaign.

Physician James DeLine eases into his work day starting at 5 a.m. at his home in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

University life was hard.DeLineremained so miredin grief that when he ate, he suffered terrible abdominal pain and had to lie on his stomach for relief.

Still, he took on a demanding schedule.Driven students tended to enter the more advanced honors program in either chemistry orbiology. DeLine, a physiology major, enrolled in both.

He paid for college through restaurant jobs and financial aid.

He went on to medical school, first in Champaign, then at the University of Illinois campus in Chicago. He lived in the citys Little Italysection on the nearwestside. There he met his future wife, Ann Doherty, who worked in a print shop.

DeLinegraduated from medical school on June 7, 1980. The next day, he and Ann married.

A week later, he started his residency in Wausau.

He would work a 24-hour shift, take 24 hours off, then head back for another 24 hours at the hospital. By the time Id stagger home for some rest, he says, I was sleep-deprived, hungry, with a headache.

The schedule bothered his wife. She missed him.In his next job, she would see even less of him.

Physician James DeLine checks on Dean Pease at Vernon Memorial Healthcare in Viroqua. Pease was admitted to the hospital for breathing difficulties.Mark Hoffman / Milwaukee Journal Sentinel

In LaFarge,DeLineworked harder than he had in his residency.

He was on call 24 hours a day, seven days a week. To make ends meet, both for his family and the clinic,DeLineworked five shifts a month in the emergency room at Vernon Memorial Hospital in Viroqua.

Some days he would work 9 a.m. to 5 p.m. at the clinic, then drive to the hospital and work 6 p.m. to 8 a.m. in the emergency room. He would return to the familys home just in time to shower and get to the clinic by 9.

There were times when he was tired, but it didnt slow him down, Marcia Bader, his now-retired office managersays. It was that deep-seated caring that kept him going.

After a morning of driving around visiting patients, physician James DeLine, right, updates the staff at his clinic.Mark Hoffman / Milwaukee Journal Sentinel

It was his wife,AnnDeLine, too.

The woman who had dreamed of being a mother did everything for the couples four children, all born within a five-year span. She washed cloth diapers and hung them out to dry. Shecooked, cleaned, took the children for walks, helped with school and play, and accepted with grace all the times when her husband was called away from holidays and birthday parties.

"The calendar of holidays does not apply," she says. "He helps people when they need him like the volunteer fireman races off when the alarm sounds; like the farmer plants and harvests when the ground and weather are ready."

"Life is lived by needs, not calendars and time slots."

This drawing is a gift from an Amish patient. James DeLine keeps it on his desk at home.Mark Hoffman / Milwaukee Journal Sentinel

Villagers embraced their doctor. Patients said they were accustomed to physicians who talked at them most of the time;DeLinelistened.

The clinic struggled financially in the early years. Not everybody paid their bills, Bader recalls. But the doctor wasnt going to send them to collection firms, and he wasnt going to stop caring for them.

The doctor and his wife became fixtures ofcommunitylife. They went to their childrens cross country meets and other school events. They attended the annual Kickapoo Valley Reserve Winter Festival.

But it was his presence in the homes of area residents that endeared him to them.

My father was diagnosed with colon cancer in 1994. The thing that always struck me was that Dr.DeLinestopped in to see my mom and dad one night after a basketball game, recalls Bonnie Howell-Sherman, editor and publisher of the weekly Epitaph-News in nearby Viola.

That was just unheard of. My mom is going through dementia now and out of all of the people shes met since shes been here, hes the one she remembers.

The villagers didnt just likeDeLine. They depended on him.

They worried about him, too.

Theres been two things about Dr.DeLinethat the whole community has been concerned about, Steinmetz said. One was, how do we keep him? The other was that hestayhealthy.

From time to time, rumors spread that the doctor was sick, even dying.

In 2007,DeLinehad noticed a problem. He would urinate, only to discover a short time later that he needed to go again.

It was prostate cancer.

Courtesy of the Viola Epitaph-News

Feeling, as he put it, reflective, maybe anxious too,DeLineapproached the Epitaph-News editor. He asked to write a series of columns for the newspaper describing his illness and treatment. He would counter the rumors with transparency. He called the column, From the Other Side.

I decided early on that I was comfortable sharing my experience with our community, he wrote in the first column. After all many of you have shared your concerns, fears and symptoms with me for nearly 25 years. Each of us knows that our turn must come for illness and eventually death.

He discussed his fears about surgery to remove his prostate Would I be able to jog again?He evensharedthe frustration of phoning to make a doctors appointment and going through endless computer prompts before reaching a live human voice.

His columns took readers through his surgery, recovery andreturn home.

The way the whole village shared the doctors illness and treatment, thats part of small-town life, explains Howell-Sherman, the newspaper editor.

Its been 12 years sinceDeLinessurgery. The cancer hasnot returned.

An Amish teen pulls farm machinery down a road in La Farge.Mark Hoffman / Milwaukee Journal Sentinel

Of all the relationships the doctor built in LaFarge, the most challenging involved his Amish patients.

DeLine found his medical work was affected by a deeply held principle among the Amish, expressed in the German wordgelassenheit, which means yielding oneself to a higher authority. Among the Amish, the word encompasses a calmness and patience, as well as a belief that individualism must take a back seatto the good of the community and the will of God.

A sign warns motorists they may encounter horse-drawn vehicles on Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

While some Amish visit hospitals and accept modern medical techniques, others prefer natural methods and traditional treatments: herbs, vitamins, supplements and home remedies. In the LaFargearea, it is not unusual for an Amish family to turn to these methods beforedecidingto see DeLine.

Such was the case with Abie and Edna Yoder when their 8-year-old daughter, Barbara, first grew sick in spring 2015.

The girl had little appetite and suffered from a terrible stomachache and bloody diarrhea. Barbara weighed 38 pounds 19 pounds below average for an 8-year-old.

The Yoders took her to a so-called non-traditional doctor used by some of the Amish; these tend to be herbalists, specialists in natural medicine and others, all of whom lack medical degrees.He viewed her blood under a microscope and told the family she might have colon cancer.

The parents worried terribly about their daughters survival, but worried too about putting her in the hands of a traditional doctor. The scenario that haunted them had happened to a 3-year-old Amish boy with leukemia. The boy was given chemotherapy, they say, despite the excruciating pain andultimate failureof the treatment.

He begged to be released to go to Jesus, Edna Yoder recalls.

The Yoders approached a midwife, whosent her husband to speak with DeLine. The husband explained to the doctor the circumstances and the familys hesitation. Then the Yoders brought their daughter.

"Dr.DeLinemade it really clear that he would respect our wishes,Edna Yoder recalls.

Their daughter was admitted to American Family Childrens Hospital in Madison.DeLineconsulted with a pediatric cardiologist hed worked with at UW, Amy Peterson.

Dr.DeLinehad noticed that she had interesting looking bumps on her arms and on her legs, Peterson recalls. They were deposits of cholesterol. Dr.DeLineand I started thinking along very similar lines very quickly.

Genetic testing confirmed their hunch. The girl had extremely rare sitosterolemia, the same illness that would later be diagnosed in Perry Hochstetler.

Treatment lowered the girls sitosterol levels and helped her gain weight.

DeLineand Peterson have since foundamong the local Amisha dozen othercases the second largest cluster of the disease in the world.

An Amish farmer makes his way to work on a fence along Highway D between Cashton and La Farge.Mark Hoffman / Milwaukee Journal Sentinel

Almost 200 diseases are found in much higher proportions among Plain People. Scientists have developed a special Amish genetics test that screens the blood for more than 120 of them.

DeLine has seen patients with more than 30of the diseases on the testand has at least two patients with diseases neverdescribed in medicine.

Across the globe, there have beenonly20 to 30 cases of a disease called BRAT1; DeLine has seen six. Babies with the illness are born rigid and are prone to frequent seizures.

When the baby is born you cant straighten the baby, DeLine says. The eyes are jerking, face twitching. Some moms say they have felt things that suggest the babies have been seizing in the womb.

Continued here:
In a Wisconsin village, the doctor makes house calls and sees the rarest diseases on Earth - USA TODAY

Part one of our three-part PAST LIVES series on Jewish genealogical research. Parts two and three will be available next week.

Jennifer Ortiz has a screenshot saved on her computer. Its an image that captures a moment that changed her life.

Right there on the screen: Stewart Bloom is your father, she said, describing the message she received when she logged in to see the results of her home DNA test.

Ortiz is one of millions of people who have taken a DNA test like the ones sold by 23andMe or Ancestry.com. Ortiz, who grew up Catholic in Utah, found out from the test that she was 50 percent Ashkenazi Jewish a result that led to the discovery that she was the child of Bloom, a Jewish photographer in San Francisco, and not the man who raised her.

Thats when my world changed, she said.

But what is 50 percent Jewish?

The question itself is a new wrinkle in the age-old debate of just what it means to be Jewish, which has been given a kick in the pants from the commercialization of a field of science that says it can tell you something new: For a price, you can now choose from one of seven commercial genetic tests to find out just how Jewish you are (among other things).

Its a very interesting, different and complicated and morally ambiguous moment, said Steven Weitzman, director of the Katz Center for Advanced Judaic Studies at the University of Pennsylvania and former director of the Taube Center for Jewish Studies at Stanford University.

In the past few years, commercial gene testing has taken off, driven by aggressive advertising that purports to tell the real story behind your ancestry. The magazine MIT Technology Review analyzed available data to estimate that more than 26 million people had taken at-home tests since they first went on the market more than a decade ago.

Its really beginning to seep into peoples consciousness, Weitzman said.

Sunnyvale-based 23andMe and Ancestry.com, headquartered in Utah, will ask you to spit in a tube and then, several weeks later, will give you a pie chart that might say, for example, 20 percent Swedish, 8 percent Greek and 11 percent German. Or, perhaps, 39 percent Ashkenazi Jewish.

But is there such a thing as 39 percent Ashkenazi? Yes, according to professor of epidemiology and biostatistics Neil Risch, director of UCSFs Institute for Human Genetics.

Its very easy to identify someone whos Ashkenazi Jewish, said Risch, who also does research on population genetics for Kaiser Permanente Northern California.

Thats because there are genetic markers distinct to the Eastern European Jewish population, partly due to a population founder effect, a way of saying that they descend from a small number of ancestors. Also, Jews in Europe tended to marry other Jews, making them endogamous.

Jews were not allowed to intermarry, Risch said. He added that on top of that, there were other external factors; for centuries, Christian churches forbade their flock from marrying Jews.

Ashkenazi Jews share a genetic profile so distinct that even commercial tests can spot it, unlike the difference between, say, Italians and Spaniards, who share a more diffuse Southern European profile. Risch said that although commercial genetic tests will show a percentage of your heritage from very specific regions in Europe, these results should be taken with a grain of salt.

Those kinds of subtle differences are challenging and have to be looked at with some skepticism, Risch said.

I call it entertainment genetics, said Marcus Feldman, a Stanford biology professor and co-director of the universitys Center for Computational, Evolutionary and Human Genetics, when you go and find out where your ancestors came from.

But for Ashkenazi Jews, heritage is pretty clear. Pick a street, Feldman said. Then pick any two Ashkenazi Jews at random walking down it.

Theyd be fifth to ninth cousins at the genetic level, Feldman said. Ashkenazi Jews are actually that closely related, all descended from a small group of people.

But what about Sephardic Jews looking to get a quantitative peek at their heritage? Theyre out of luck. 23andMe communications coordinator Aushawna Collins said that the company hasnt collected enough data on those populations yet to be able to pinpoint what makes them unique in terms of genes. Risch said its because genetically they are not distinct enough from other Mediterranean peoples.

But even if science can determine whether people have Ashkenazi genes, can one extrapolate from that how Jewish they are?

What is 39 percent Jewish? Thats nonsense, said Weitzman, a former professor of Jewish culture and religion at Stanford, where in 2012 he started an interdisciplinary course on Jewish genetics with biology professor Noah Rosenberg. You cant be half Jewish. Youre either Jewish or not Jewish.

Rabbi Yehuda Ferris of Berkeley Chabad would agree.

You cant be part kosher, you cant be part pregnant, you cant be part Jewish, he said.

However, even Ferris and his wife, Miriam, have done at-home DNA tests although they did it to find relatives, not to figure out their Jewishness.

It was extremely shocking, Ferris said dryly. Im 100 percent Ashkenazi Jewish and shes 99 percent.

For zero dollars we could have told you the same thing, Miriam Ferris added.

As an Orthodox rabbi, Ferris goes not by percentages but by the matrilineal rule in establishing Jewishness.

If your mother is Jewish, youre Jewish, he said. Thats it.

The concept of matrilineal descent is an old one, but genetics are giving it a new twist, especially in Israel where the Chief Rabbinate has used gene testing to weigh in on the crucial question of who is a Jew. (In Israel, immigrants must prove their Jewish status to marry, be buried in a Jewish cemetery or undergo other Jewish life-cycle rituals.)

Thats an interesting and disturbing new phenomenon, Weitzman said.

The way the rabbinate has used gene testing is by examining mitochondrial DNA, which gives much less information than testing of the more extensive DNA in the cell nucleus, which is what home tests do. But unlike nuclear DNA, mitochondrial DNA is almost always passed from mothers to their children. This dovetails nicely with the notion of matrilineal Jewish descent, and rabbis in Israel have now begun accepting mitochondrial DNA testing for people, primarily immigrants or children of immigrants from the former Soviet Union, who have inadequate documentation of their Jewish status.

The test can identify Jews descended from four founder women ancestors. However, it can be used only to prove a positive, as half of Ashkenazi Jews dont have the characteristic mitochondrial chromosomes at all. Still, for people who have no paper or eyewitness proof of Jewish descent, genetic testing can be the deciding factor.

When you dont have enough information, it might be the linchpin, Ferris commented.

The rabbinates use of mitochondrial DNA testing is controversial, with some critics calling it humiliating. The Yisrael Beiteinu party, which represents Russian-speaking immigrants, is trying to challenge it in Israels Supreme Court.

Outside of Israel, too, not everyone is comfortable with using science to figure out who is a Jew. Its something the world has seen before.

People were also using science to figure out who people were. We called that race science, Weitzman said.

And the people who did it?

I mean Nazis, he clarified.

Genetics have been used against Jews in the most virulent way, said UCSFs Risch. But he thinks that Jews are inclined right now to trust the science because its a field filled with Jewish researchers. We love science because were all the scientists! he said.

In the past two decades, there has been a rash of research on the genetic components of Judaism, a boom coinciding with the Human Genome Project, which ran from 1990 to 2003. Much of it was done by Jewish scientists. The initial research on mitochondrial DNA in Ashkenazi Jews was done in 2006 by Israeli geneticist Doron Behar; he is now CEO of genetic analysis company Igentify.

In 1997, a study of traits in the Y chromosome, passed only from father to son, found that more than 50 percent of men with the last name Cohen (or Kahan or Kahn or other variants) had a certain marker, giving some support to the idea of a hereditary Jewish priesthood.

In 2010, medical geneticist Harry Ostrer did work that found various communities of Jews shared a common Middle East ancestry. And in 2009, Feldman, who is also director of Stanfords Morrison Institute for Population Biology and Resource Studies, studied to what degree Jewish groups in different places were related. (This last topic has been studied further, including by Risch.)

But Feldman himself has experienced firsthand how his own research has been twisted for what he called racist conclusions when economists drew inferences from his work with fellow Stanford professor Rosenberg to suggest theres a genetic basis for economic success.

We were outraged because those two people were using our data to make these quite racist statements, Feldman said.

Feldman said its common for the public to seize on genome research and try to use it to explain everything from intelligence to criminality; he said scientists have a responsibility to be on alert all the time.

Theres been too much emphasis on the genetic basis of a lot of human behaviors, he said. When genetics is your hammer, everything becomes a nail, he said. So it doesnt matter what human trait youre interested in.

Even if geneticists like Feldman consider home testing kits entertainment, their popularity shows that people are interested in using genetics to figure out who they are, including how Jewish. Weitzman said it might be connected to how hard it is for most Ashkenazi Jews in this country to trace their roots; Jews in Central and Eastern Europe didnt have last names until the 18th or 19th centuries.

A lot of us, we dont know a lot about our ancestors prior to our grandparents, Weitzman said.

So in searching for ancestors, people are turning to the companies that promise results. 23andMes Collins told J. theyd sold 10 million kits in total, and Ancestry.com in May issued an announcement claiming to have tested more than 15 million people.

Cantor Doron Shapira of Peninsula Sinai Congregation in Foster City is one of them. He was always into Sephardic music and food. As a percussionist, he felt drawn to the rhythms.

People have very often asked me, Are you Sephardic? he said. And I always said, Not to my knowledge.

Last year he saw an ad for Ancestry.com, got his DNA testing kit and sent it in with his sample.

It comes back 94 percent no surprise Russian Ashkenazi Jewish European roots, he said.

But the test also revealed 6 percent of his roots were other, including from Southern Europe and the Iberian Peninsula. Maybe Shapira had a Sephardic ancestor after all?

He started to think about which side of the family it could be and considered asking his mom to get tested. It wasnt that the result suggesting a Sephardic ancestor changed his perception of who he was, he said, but it validated something about himself that he and others had always noticed.

I got a little bit excited, he admitted.

And then he got an email update from Ancestry.com.

It says, scratch that, youre now 100 percent Ashkenazi Jewish, he said with a laugh.

But even with the change in result, Shapira says hes not against using home genetic testing to get a peek into his ancestry.

Im inclined to do another one, he said. Just to see if its consistent.

Many others are taking the tests and their results very seriously. People are making life decisions now on the results of this test, Weitzman said. Theyre deciding whether theyre Jewish or not.

Thats what Ortiz has done. If you ask her now if shes Jewish, the 53-year-old has an answer.

Yes, I am, she said. Ill say yes.

She had never been told that the father who raised her was not her biological dad, and when she confronted her parents, they denied it. But she knew it was no mistake when the DNA testing company delivered a startling message with the name of her biological father thats the screenshot shes got saved on her computer.

Ortiz immediately made contact with Stewart Bloom and flew down to San Francisco last year from her home in Portland to visit. There was a lot to process, of course, but for Ortiz its been a wonderful thing and that includes embracing Jewishness, something she said shed always been drawn to.

When I found out Im actually 50 percent, on one level it didnt surprise me, she said.

Now shes converting that number into something deeper: Shes planning a ceremony in Portland with a Jewish Renewal rabbi not a conversion, but something to celebrate her new identity.

It would help me take a step into Judaism, she said. Not just from a biological level but a little more than that.

Thinking about Jewishness in terms of biology is something that bothers Emma Gonzalez-Lesser, a Ph.D. candidate at the University of Connecticut and the author of an article titled Bio-logics of Jewishness. If being Jewish is something in the genes, then that excludes people who have come to Judaism in other ways.

People who convert may not be seen as legitimately Jewish as someone who has 30-something percent ancestry from a genetic test, she said.

And beyond that, she added, there are some ideas underlying the current fascination with genetics that arent being questioned, like the question of whether Jews are a race.

I think part of our societal fascination with genetic testing really rests on this assumption that race is really this biological function, she said.

(Prominent researchers like Feldman, Rosenberg and Risch have been caught up in the sensitive question of whether studying the genomics of populations leads to a biological definition of race; the issue has been written about at length and remains controversial.)

Weitzman said the interest in ancestry reflects a trend around the world of turning to biology, genetics and race as a way to encode identity.

Part of whats going on in the Jewish world right now is a reflection of a broader revival of ethno-nationalism, Weitzman said.

In addition, at a time when American Jews are less likely to go to synagogue or practice rituals in the home, they face more questions about what it means to be Jewish. That may incline them to trust in science to determine their identity, especially when they have only a few dusty boxes of papers, if that, to show their family history. That makes Jewish genes a door into the past.

Theres something hiding inside of you that is preserving your identity intact, Weitzman said. To me, thats part of the appeal.

Read more from the original source:
Who is a Jew? DNA home testing adds new wrinkle to age-old debate - The Jewish News of Northern California

Imagine this: you are a cash-strapped early-career health scientist, looking for your next big project. One day, you get your big break the chance to study half a million people, and the freedom to focus on virtually any topic you like, from DNA mutations to blue cheese intake.Best of all, this study will cost you virtually nothing.

Its easy to imagine that organisations like the UK Biobank make anything possible. Biobanks are huge repositories containing health, genetic, and demographic information from volunteers. Researchers look through the vast amount of data to find new health patterns and trends. There are few limits: you can analyse scans of volunteers hearts, infer their sexual behaviours, or study their reasoning skills.

Over 850 UK Biobank papers have been published, with new studies appearing in journals constantly. Studies so far have found results which could improve global health, such as a study showing that anyone, regardless of their genetic background, can reduce their risk of dementia with a change in lifestyle.

Criticisms of the project include that the research coming out of the UK Biobank will only benefit certain people, and even then, the usefulness of the health associations found are under question.

Compared to the 2011 UK census, Black, Indian, Pakistani and Chinese participants are all underrepresented in the Biobank by at least one third. David Curtis, at University College London, tested whether this under-representation of ethnic minority groups has any impact on schizophrenia genetics research.

Also read:How Do We Stop Genetic Medicine From Perpetuating Inequality?

He found that calculating the risk for schizophrenia when using Biobank data is only accurate for white European populations. This means that in the future, white people could be offered genetic tests for certain health conditions, while other people could be offered incorrect or no testing at all.

This is because of the complex evolutionary history of humans. While humans who migrated out of Africa and settled in Europe faced bottlenecks where their genetic diversity was reduced dramatically, Africans have maintained large and diverse populations, and so have a more unique genetic makeup.

Other researchers are investigating the Biobanks data as well. Na Cai, a statistical geneticist at the Wellcome Trust Sanger Institute and European Bioinformatics Institute, began thinking about howwhat gets putinto the Biobank affects what conclusions come out of it, similar to Curtis study on schizophrenia.

In herstudy, currently a pre-print posted on bioRxiv, Cai and colleagues decided to focus on major depressive disorder. Depression is one of the most common mental health disorders, and has been a major topic of investigation in genetic association studies.

Because of this, Cai was concerned that researchers might not be investigating depression specifically, but instead looking at the genetics of poor mental health in general.

Cai defined depression in five different ways, using both strict and loose criteria. For example, some people might tell their doctor that they feel depressed, but not meet the specific psychiatric definition of major depressive disorder. She looked to see if the same genetic variants were associated with each different definition of depression.

The results were surprising. She found less of a genetic contribution towards all the looser definitions of depression compared to the full assessment used by psychiatrists.

Also read:DNA Sequencing Is Inadvertently Exacerbating Social Biases and Inequalities

First, it shows that researchers do not have the power in their studies that they assume they do. Previously, it was assumed that it didnt matter too much if researchers defined depression loosely. It could be that these broader definitions are just milder cases of depression, or show less of a genetic association because more people in these groups are misdiagnosed, which dilutes the signal.

However, when the researchers controlled for these factors, nothing changed. The strict psychiatric definition of depression was still genetically distinct from these other versions, meaning that it had more genes associated with it, and there wasnt much overlap in the genes which all the definitions did share.

A technician works at a genetic testing laboratory in China. Photo: Reuters

This throws into question whether papers which have found links between depression and genes are coming to the right conclusions. Are they finding a genetic basis for major depressive disorder, or are they showing something else like the less specific genetic basis for poor mental health in general?

Both Cai and Curtis conclude that we need to rethink how we collect biobank data. Both issues are the result of design flaws present since the UK Biobanks inception. Cai does not necessarily think all participants need to be assessed by a psychiatrist. She suggests that we use new technologies, such as computer assessments and smartphone behavioral tracking, to diagnose people with clinical depression.

But tackling the lack of diversity in biobank data requires those in charge to recognise that the current design excludes marginalised and hard-to-reach groups.

John Savill, the Chief Executive of the UK Medical Research Council, the organisation which provided major funding for the Biobank, was reported by the Guardian to say in response to Curtis research that I do not think it is helpful to cast concerns over experimental design as equalities issues.

Also read:Widely-Available Genetic Risk Tests Arent Always Useful and Could Even be Harmful

However, David Heel, who is the Chief Investigator of the East London Genes & Health Project, which aims to improve the health of South Asian people in the UK, thinks that the UK Biobanks recruitment tactic of mailing a letter meantBritish-Bangladeshi and British-Pakistani people missed out. When reached via email, Heelsaid that, in regards to volunteers in the project, A much better response rate comes from a face to face discussion, or a trusted setting such as talking at a doctors office.

Curtis also thinks more can be done, but is not optimistic that we can save the UK Biobank from this bias. He saidIt may be too late to try to make the UK Biobank more representative. We may need to look to other initiativesand to look to samples recruited in other countries.

The article was originally published onMassive Science.You can read ithere.

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Genetic Databases Are Leaving Marginalised People out of Their Data - The Wire

A black Anguscow from Coaldale, Alta.sold for a record $140,000 earlier this month, setting a record for a southern Alberta auction house and the industry as a whole.

Listed as U2 Erelite 109z in the auction catalogue, the salewas part of U2 Ranch Ltd.'s complete herd dispersal, held atthe Perlich Bros.Auction Marketin Lethbridge, Alta.

It was standing room only at the auction,with buyers from Canada, the United States, Mexico and Europe all hoping to get the chance to own the prized animal.

"The sale started on Monday, Nov. 12," recalls Ken Perlich,one of the five family partners who own and operate the auction.

"We sold all through the red [Angus] andthe top seller there was $65,000. That was very impressive. Then the next day when the black [Angus] came in, theytopped-out the the two-day sale at at $140,000. That was truly amazing," Perlich said.

"I think the [seller's] family was surprised. We were surprised," Perlich said.

"I don't think there was anybody there that expected that kind of price range."

The auction catalogue included a detailed description of the $140,000 cow.

"109z is the most influential cow to walk our pastures," itreads.

"She is admired by all with her unique blend of massive power and exquisite femininity. She and her daughters are beyond compare for teat spacing and udder quality."

Every rancher is lookingfor different traits in a bred cowto improve the quality of theirherd. The Canadian Angus Association evaluates about 25 different traits.

That's why there's so much detail in the auction catalogue descriptions like those listed above.

"[109z]ranks in the top one percent for Weaning Weight, Yearling Weight and Total Maternal Value. Since 2015 she has had a perfect production record and turned into a very productive donor," read the catalogue.

$140,000 seems like a lot of money for one cowto many outside thecattle industry.

But insiders say that a price for bovine that's higher than a Buick shouldn't be a surprise.

"It's not uncommon for an Angus female to sell for $25,000up to $50,000," saidMylesImmerkar,Chief Executive Officer of the Canadian Angus Association.

ManyAngus bred cows will sell for $1,000 to $2,500 each.

When it comes to 109zspecifically, Immerkar says the value of that cow came down to her total maternal value.

If you're buying 109z, you're not buying her for meat. You're buying her for her production record and her pedigree.

When it comes to her breeding potential, 109zis a pregnant 8-year old cow. She's no spring chicken, but in those years she's proven herself.

All three of her sonshave sold to purebred herds.One bull, named Coalition, sold for $32,000. Anothercalled Temptation soldfor over $47,000.

While 109z is entering her twilight years, she's not done producing yet.

She's likely got another two to sevenbreeding years left in her.

Every year she'll give birth to a single calf and produce another 25 to 30 embryos, which can be transplanted into surrogate cows or sold for hundreds of dollars each.

If all goes well, 109z could produce over two dozen calves every yearfor the rest of her fertile life, which could mean hundreds of thousands of dollars.

So what does all this mean for the average Canadian beef eater?

Nothing directly. You're never going to find cuts from a $140,000dollar animal on sale at Safeway or Loblaws.

However, the meat from her lineagewilleventually end up on your kitchen table because 109z'sprogeny will pass her expensive genetics to the greater North American Angus herd.

Some of those genes will end up in the commercial sector, which provides meat for fine butchers, steak houses even on the menuat mass-market burger chains such asMcDonalds or Harvey's.

Genes matter because producers are always striving to breed better beef.

Sciencecan't help usgrow a better burger, so instead it helps the herd through selective breeding.

"Well, certainly [109z] isa recordwithin our association in Canada for a female selling," saidMylesImmerkar,Chief Executive Officer of the Canadian Angus Association.

"Earlier this year we did have another record where a bull sold for$200,000," he said.

At the Perlich Bros. Auction, the sale of 109z will stand as an important day in the market's 52-year history.

"It was a historic thing fornot just the cattle industry or the Angus industry but for our family business," saidMaureen Perlich-Kasko, whowas on the block during the historic sale.

"I don't think we'll ever be a part of anything so momentous. It's something we're very proud of, that it got to happen here and that we werea part of that day."

Written and produced by Tracy Fuller.

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A $140,000 lesson in the economics of bovine genetics and breeding - CBC.ca

Genetics and weather are coming against Newfoundlanders and Labradorians who have the highest incidence of arthritis in Canada.

One in four Newfoundlanders and Labradorians suffer from one form of arthritis or another.

That from the Arthritis Societys Jennifer Henning. She says arthritis is an inflammation of the joint, but there are some 100 different types of the disease which is split into two major categories, inflammatory and degenerative.

Rheumatoid arthritis is an autoimmune attack on the joints by the bodys own immune system. It can happen at any time, and affect the entire body.

Osteoarthritis is the most common form and comes as the result of wear and tear, injury or the general aging process. It involves a degeneration of the cartilage between the bones of the joint.

Both types of arthritis result in significant pain and loss of mobility.

Henning says unfortunately, weather doesnt help.

She says in laymans terms, the body is tighter because its cold, and when its wet the tissues swell, causing a greater amount of pain and inflammation.

She says genetics also play a strong role especially in the inflammatory type of arthritis.

Rheumatoid arthritis is more common in women and is often triggered by a traumatic event like childbirth, injury or illness.

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Genetics and Weather in NL Producing Highest Incidence of Arthritis in Canada - VOCM

As the quest to understand the complexities of Alzheimers continues, researchers have now identified genetic mutations related to autism that may play a role in the neurodegenerative disease as well.

The study, out of Tel Aviv University, pinpointed thousands of genetic mutations in aging human brains that overlapped with mutations involved in autism and intellectual disability. They also found that many of these mutations occurred in the cell skeleton/transport system, a network of proteins that help organize cells.

We were surprised to find a significant overlap in Alzheimers genes undergoing mutations with genes that impact autism, intellectual disability and mechanisms associated with the cell skeleton/transport system health, Illana Gozes, lead author of the study, said in a news release. Importantly, the cell skeleton/transport system includes the protein Tau, one of the major proteins affected in Alzheimers disease, which form the toxic neurofibrillary tangles

Two decades ago, Gozes and the team at the laboratory discovered a protein known as ADNP. ADNP is mainly known for its connection to ADNP syndrome, a neurodevelopmental disorder that includes intellectual disability and autism spectrum disorder. But the team of researchers identified that ADNP also experiences mutations in the brains of people with Alzheimers.

Gozes built on that in the latest study, which aimed to create a paradigm shift in how people understand Alzheimers. That viewpoint focuses on how genetic alterations that are not inherited, known as mosaic somatic mutations, lead to brain pathology and disease.

The researchers hope the research will help lead to new therapeutic channels down the road.

We found in cell cultures that the ADNP-derived snippet, the drug candidate NAP, inhibited mutated-ADNP toxicity and enhanced the healthy function of Tau, Gozes said. We hope that new diagnostics and treatment modes will be developed based on our discoveries.

Genetics continues to be a large area of research around Alzheimers and dementia. Recently, researchers discovered that a genetic mutation known as APOE3ch delayed a womans high risk of developing Alzheimers by three decades.

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Alzheimer's and Autism: Researchers Pinpoint Genetic Mutations Overlapping in Both Diseases - Being Patient

A DNA test can reveal surprising facts about us certain genes make us more inclined to have dry earwax, for example, and others make us more likely to sneeze when we see a bright light. Some genes even result in people being more attractive targets for mosquitoes, so if youve ever felt personally singled out by the insect during the summer months, its not a cruel conspiracy its your DNA.

Innocuous facts like these were what DNA kits were used for finding out when they first became commercially available. However, as the tests have become more sophisticated, the companies behind them have shifted their marketing focus. Users of at-home DNA tests have been known to uncover deep-rooted facts about themselves, from discovering long-lost relatives to learning of their ancestors origins and their susceptibility to genetic diseases.

Finding out that you have a pre-existing health condition might not seem like the best idea for a Christmas present, but that hasnt stopped the test kits from enjoying a surge in popularity. MIT Technology Review estimates that by the start of 2019, more than 26 million people had taken an at-home ancestry test. The market is expected to be worth $45bn by 2024.

Nevertheless, despite the emerging industrys rampant growth, there have been mounting concerns that its practices could infringe on consumers rights. Whenever people fork out $100 to $200 for a DNA test, the hidden cost of that transaction is their personal data which, from then on, is held in the databases of a private company. Once these companies obtain genetic information, its very difficult for users to get it back.

By taking DNA tests at home, many have unwittingly stumbled upon long-kept family secrets. Some have seen their parents go through a bitter divorce after their test revealed they were actually conceived through an affair

Ignorance is blissLong before people were able to take DNA tests from the comfort of their own home, psychologists worried about their possible impact on peoples mental health. Ever since the Human Genome Project was started in 1990, many scholars have maintained that DNA tests should be used with caution, on the grounds that understanding ones own health risks could lead to anxiety or depression.

Conversely, a study by the Hastings Centre found that discovering an increased risk of developing Alzheimers disease did not make people more depressed or anxious. And in the event that people discover a particularly urgent health risk like a mutation of the BRCA1 or BRCA2 genes, which puts individuals at a high risk of developing cancer at a young age any adverse psychological effects are presumably worth it to obtain this life-saving information.

However, at-home DNA tests could still pose a risk to mental health, in part because they remove medical professionals from the equation. Adrian Mark Thorogood, Academic Associate at the Centre of Genomics and Policy, warned that this is far from best practice for receiving a DNA test result. Results should be communicated through a medical professional who can interpret the result in the individuals specific context, and offer a clear description of the tests limits, he told The New Economy.

Without a professionals assistance, users could be left alone to battle with a troubling revelation about their health. There is also a danger that without guidance, some people could misinterpret their test result, placing undue stress on their mental health.

There is another unpleasant discovery that people can make through a DNA test one they may be even less prepared for. By taking DNA tests at home, many have unwittingly stumbled upon long-kept family secrets. Some have seen their parents go through a bitter divorce after their test revealed they were actually conceived through an affair. Others have discovered they were conceived by rape and that their mother decided to never tell them. What began as a seemingly harmless urge to find out more about their heritage ends in psychological trauma and family breakdown.

Brianne Kirkpatrick, a genetics counsellor, is part of a growing sector of therapy specifically tailored towards helping people come to terms with receiving unexpected DNA results. One cant help but wonder whether her patients end up wishing theyd never taken the test at all.

I dont recall anyone saying they wish they could go back and not learn the truth, Kirkpatrick said. But I have had a number of people say to me they wish they had found out their shocking information from a person, rather than a computer.

While we might think wed prefer to suffer a DNA leak than a leak of our credit card details, genetic data has its own unique set of complications

The fact that virtually anyone can now find out their real parentage through a simple DNA test has wide-reaching repercussions for the accountability of paternity. Historically, men have always had a much greater ability to conceal their status as a parent, as they dont have to bear the child. The world of direct-to-consumer DNA testing blows this capacity for anonymity out of the water.

This is particularly problematic when it comes to sperm donation. Anonymity is a key selling point for many potential donors, but now all their future biological offspring has to do is swab the inside of their cheek to completely compromise that anonymity. Research suggests that we could see a drop in donor rates as a result. A 2016 study in the Journal of Law and the Biosciences found that 29 percent of potential donors would actually refuse to donate if their name was put on a registry.

The wave of parental discoveries made through direct-to-consumer DNA tests raises questions about where the responsibility of the seller sits in all this. Most health professionals recommend that individuals seek out genetics counselling once they receive DNA results. Some, like Invitae, offer counselling services but arent direct-to-consumer companies. Many of those that are including 23andMe do not offer such a service. It could be argued that this shows a certain disregard for the consequences of using their product. Unfortunately, irresponsible decisions like this have tended to characterise the industrys path to success.

Genetic Wild WestIn September 2019, 17 former employees from the Boston-based genetic testing company Orig3n accused the firm of giving consumers inaccurate results. Allegedly, if a customer took the same test twice, their results could be extremely different each time. A former lab technician produced a leaked report to Bloomberg Businessweek that revealed 407 errors like this hadoccurred over a period of three months.

Part of Orig3ns USP was that it offered advice supposedly calculated based on a consumers genetic profile. Former employees have cast doubt over the companys modus operandi by claiming that the advice they gave was in fact routinely lifted from the internet. The advice given ranged from the technically correct but uninspired to the broadly unhelpful such as telling people to eat more kale and the utterly bogus, like advising clients to eat more sugar to eliminate stretch marks.

Although Orig3n is a relatively small player in the sector, news of this scam nonetheless illustrates how little protection consumers have in this nascent market. Analysts say we are currently witnessing a Wild West period in the consumer genetics space thanks to a lack of regulation, raising concerns over whether we can trust these companies with our genetic data. While we might think wed prefer to suffer a DNA leak than a leak of our credit card details, genetic data has its own unique set of complications.

In the United States, if my social security number is stolen, that is difficult, but not impossible, to get frozen, changed, etc, said Natalie Ram, an associate professor at the University of Maryland Francis King Carey School of Law and a specialist in bioethics and criminal justice. But theres literally no way to change your genetic code.

Genetics platforms like 23andMe, AncestryDNA and FamilyTreeDNA are now sitting on a goldmine of very personal data. In 2013, a 23andMe board member told Fast Company that it wanted to become the Google of personalised healthcare. If this statement makes anything clear, its that the company wasnt planning on making its millions simply by selling DNA test kits: its mission was always to amass significant amounts of data on its users, which it could then monetise.

There is a wide range of reasons why companies might want to buy genetic data. Perhaps the most benign is medical research, which genetics platforms allow users to opt in or out of. But other companies might use your genetic data to better sell you products or, conversely, deny them to you for instance, one sector that would see a clear monetary value in obtaining genetic data is insurance. In the US, the Genetic Information Nondiscrimination Act of 2008 prevents employers and health insurers from using a persons genetic information when making decisions about hiring, firing or raising rates. However, this does not include life insurance or short or long-term disability insurance.

At first glance, it seems as if theres a simple solution: if users are concerned about these risks, they should just choose for their data to be kept anonymous. However, choosing this option is not as foolproof as it once was. As long ago as 2009, researchers demonstrated that they could correctly identify between 40 and 60 percent of all participants in supposedly anonymous DNA databases by comparing large sets of that data with public datasets from censuses or voter lists. Since that experiment, DNA databases have grown massively.

With access to four to five million DNA profiles, upwards of 90 percent of Americans of European descent will be identifiable, said Ram. Its verging on a comprehensive DNA database that no US state or jurisdiction has suggested would be appropriate.

Shaping the lawWith comforting statements like your privacy is very important to us (ancestry.co.uk) and we wont share your DNA (familytreedna.com) emblazoned on their websites, some genetics platforms seem to be making privacy their number one priority. In the US, 23andMe and Ancestry are part of the Coalition for Genetic Data Protection, which lobbies for privacy protection in the DNA space. However, while the coalition advocates genetic data privacy in a specific context, it argues for a one-size-fits-all policy concerning all data. By comparison, the EUs General Data Protection Regulation regards genetic information as personal data, which makes DNA unique from other kinds of data.

There is a fundamental legal problem with boxing genetic data in with all other varieties, including the data that social media websites collect about us. In most cases, what a person does on the internet implicates them alone genetic data is different. We share our DNA with members of our family, which means that sharing it without their consent can be problematic.

Even if I can consent to using my DNA to identify me, that should not extend to my ability to consent to using my DNA to identify my relatives, said Ram. The reason I think thats a really critical distinction is because genetic relatedness is almost always involuntarily foisted upon us. So we dont choose our parents, we dont choose how many siblings we have. Its a product of biology, not a product of choice.

The legal issues surrounding genetic relatedness were put to the test in 2018 when police discovered the true identity of the Golden State Killer, who terrorised California in the 1970s and 1980s in a homicidal spree. Law enforcement officials were able to convict him only because they had succeeded in connecting the DNA of the suspect with that of a family relative on GEDmatch, a genetic database in the public domain. Across the US and around the world, people celebrated the arrest of a notorious criminal. The only problem was that the means of capturing him was not necessarily legal.

Prior to the case, GEDmatchs site policy made no explicit reference to the potential use of consumers data by law enforcement. However, the company defended itself by saying that users should have assumed it could be put to that use.

While the database was created for genealogical research, it is important that GEDmatch participants understand the possible uses of their DNA, including identification of relatives that have committed crimes or were victims of crimes, said GEDmatch operator Curtis Rogers in a statement.

Some genes even result in people being more attractive targets for mosquitoes, so if youve ever felt personally singled out by the insect during the summer months, its not a cruel conspiracy its your DNA

However, privacy advocates like Ram argue that users consent for law enforcement to look at their data should not have been assumed. At least from a constitutional perspective in the United States, individuals ought to be recognised to have whats called an expectation of privacy in their genetic data, even if they use one of these services, she told The New Economy.

After the case, genetics platforms updated their policies to clarify their position on law enforcements use of peoples data. Interestingly, they took very different stances. While 23andMe and Ancestry said they would not allow law enforcement to search through their genetic genealogy databases, FamilyTreeDNA updated its policy to say it would give up data to officials, but only in the investigation of violent crimes. Users didnt know it at the time, but FamilyTreeDNAs policy update was already too little too late: in January 2019, it was revealed that the company had been secretly working with the FBI for nearly a year to solve serious crimes, without informing its users.

The Golden State Killer case exposed how little protection consumers really had in the direct-to-consumer genetics market. It showed that genetics platforms were capable of suddenly changing or contradicting their own policies and even, in the case of FamilyTreeDNA, betraying the trust of consumers.

Some might argue that this infringement on genetic privacy is simply the price we must pay to catch dangerous criminals. Of course, without the use of a genealogy database, the Golden State Killer may never have been caught. But the fact that genetic data can be harnessed to solve very serious crimes should not justify law enforcements unbridled access to such databases. Abuses of power do happen and, in the context of direct-to-consumer DNA tests, they already have: in 2018, for example, Canadian immigration officials compelled a man to take a DNA test and upload his results to FamilyTreeDNAs website. They then used the website to find and contact some of his relatives in the UK to gather more evidence in order to deport him.

Todays consumers are continually adjusting to shrinking levels of privacy. From the introduction of video surveillance and the mapping of residential areas on Google Earth to the revelation that Facebook harvests vast amounts of user data, we have seen the public react in the same way again and again: there is an initial public outcry, and then consumers simply adjust to the new level of diminished privacy. Our response to the rise of genetics platforms risks the issue being consigned to the same fate.

It is up to regulators to protect individuals right to privacy. While our genetic data may be something of a genie out of the bottle, that should not give the companies that collect it free rein over who sees it and what they choose to do with it.

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Collection of genetic data leads to privacy concerns - The New Economy