Do All Women Need Genetic Testing Before Pregnancy?

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For two years, a bunch of medical geneticists in Maryland and New Jersey sifted through 1,000 different genetic mutations. They looked for cellular changes that are fatal and ones that are treatable. They argued. Eventually, they decided to include close to 600 mutations found in more than 160 diseases in a single genetic screening test that will be available come January.

GenPath Women's Health, part of N.J.-based Bio-Reference Laboratories, announced the new development on Thursday at a meeting of the National Society of Genetic Counselors. GenPath says it is the most comprehensive screen currently offered: in a field of rare diseases, the test distinguishes itself by scanning for 95 disorders that are not screened for by any other company, including obscure tongue-twisters such as 3-hydroxy-3-methylglutaryl-CoA lyase deficiency and cerebrotendinous xanthomatosis.

Company officials put a lot of thought into a name for the test, ultimately deciding to call it the Pan-Ethnic Carrier Screen as a way to signal to all women, regardless of ethnicity, that genetic-testing is important for them.

But do all women really need to undergo genetic testing? More than half of pregnant women do some kind of prenatal screening or testing of their fetus, but there aren't readily available numbers on how many women choose to learn if they're carriers for various genetic diseases. The vast majority of women undergo carrier screening based on their ethnic background, although many, regardless of their heritage, are also screened for cystic fibrosis. Traditionally, certain ethnic groups — especially Ashkenazic Jews of Eastern European descent — have been advised to consider carrier screening for various fatal conditions including Tay-Sachs and Canavan diseases.

MORE: A Blood Test Determines a Baby's Sex Earlier than Ever. But at What Cost?

Indeed, GenPath is presenting the new test as a way to level the genetic playing field and expand testing to any woman, anywhere. "There are a good number of ethnicities that have been ignored by genetic testing," says Marc Grodman, CEO of Bio-Reference. "You don't have to be Jewish to have a genetic test. That's why we are calling this a 'pan-ethnic' screen."

In general, say genetic counselors, increased interest in genetic testing is welcome because it encourages women to better understand how their genetic makeup could impact their children. But pregnant women are getting bombarded with options: this is just the latest of a battery of new blood tests that can determine everything from fetal sex to Down syndrome to paternity.

When it comes to genetic testing, in particular, it's important to make sure that any screening is done in conjunction with a genetic counselor who can explain results, review options and offer guidance. "Sometimes that means not testing because the patient would not benefit or is not interested once they have a thorough understanding of the test, the benefits and possible limitations," wrote Karin Dent, president of the National Society of Genetic Counselors, in an email.

The GenPath test will be marketed to physicians, who will then offer it to their patients. It will cost $500 out-of-pocket should insurance companies decline to pay. Ideally, women would be tested before they get pregnant. Should they turn up positive for a mutation, their partner would need to be tested too. If they're both positive for the same mutation, they would have a 25% chance of having an affected baby.

MORE: How Do You Parent When There's No Tomorrow?

GenPath is not the only company working on new prenatal genetic tests. Good Start Genetics of Cambridge, Mass., is initially targeting fertility clinics with its DNA-sequencing test that will allow detection of a larger spectrum of mutations than the current genotyping method. Its cystic fibrosis screen, for example, is more sensitive than any test currently on the market, says Greg Porreca, the start-up's co-founder.

Its test, which should be available sometime next year, will look for about 20 conditions recommended by the American Congress of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics. GenPath's test, on the other hand, has the potential to identify a host of additional diseases: 3-Hydroxy-3-Methylglutaryl CoA lyase deficiency, for example, is diagnosed when a person can't process an amino acid called leucine. Potentially fatal if untreated, the condition is so uncommon that it's been reported in fewer than 100 people worldwide.

ACOG officials declined to comment on GenPath's test, but its 2008 policy statement advises screening or testing "for a limited number of severe child-onset diseases." The American Pregnancy Association, meanwhile, expressed skepticism about the wide net that GenPath is casting. "Genetic testing historically is only recommended for those identified as at risk," says Brad Imler, the group's president. "We would advise testing because there is a reason to test, not just a hypothetical something-could-be-wrong."

But knowledge is power, argues Grodman, who is convinced that parents would want to know ahead of time about any increased risks in order to be prepared. "The biggest fear about rare disorders is that a baby is born and no one can make a diagnosis," says Grodman. "Just because it's a hard decision and a hard process doesn't mean we should shy away from asking the questions."

Bonnie Rochman is a reporter at TIME. Find her on Twitter at @brochman. You can also continue the discussion on TIME's Facebook page and on Twitter at @TIME.

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Obama healthcare law issues before high court

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By James Vicini

Tue Oct 25, 2011 5:27pm EDT

n">(Reuters) - Six cases involving President Barack Obama's healthcare overhaul legislation are pending before the Supreme Court as part of the legal battle over the law's fate.

The following key issues have emerged in the legal briefs recently filed in the cases stemming from Obama's signature and most controversial domestic achievement that involved the biggest reform of the healthcare system in nearly 50 years:

INDIVIDUAL INSURANCE MANDATE

The most important issue involved whether the Congress exceeded its power by requiring that all Americans buy health insurance or pay a penalty. The law aims to provide more than 30 million uninsured Americans with coverage.

The Obama administration in its Supreme Court appeal argued that Congress could enact this provision, called the individual mandate, under its powers in the U.S. Constitution to regulate interstate commerce. The mandate is due to take effect in 2014.

Congress adopted the law to address a national crisis of health insurance costs rising beyond the reach of millions of Americans and coverage denied to millions more, Solicitor General Donald Verrilli, a former White House lawyer, said in a brief.

Opponents of the law, including 26 of the 50 states, argued that Congress exceeded its powers. They said the law dramatically expanded the federal government's power and argued that the provision should be struck down as unconstitutional.

Former Bush administration Solicitor General Paul Clement, who represents the states, called the law "an unprecedented legislative initiative" that seeks "to force individuals to engage in commerce so that the federal government may regulate them."

WHAT HAPPENS TO THE REST OF THE LAW?

In a broader issue, the states and the National Federation of Independent Business -- a lobbying group for small businesses -- said the entire healthcare law must fall if the mandate is declared unconstitutional.

The federation and states contend that the individual mandate is at the heart of the law, a carefully crafted compromise, and new insurance regulations and other provisions cannot survive on their own.

The administration disagreed. It said it would be wrong to strike down all other provisions of the law, especially those unrelated to the mandate, such as the requirement that insurers provide coverage for young adults.

The administration said a few key provisions, including one that will bar insurers from refusing to issue coverage to a person because of a pre-existing medical condition, could not be separated from the mandate.

EXPANSION OF MEDICAID ON THE STATES

The states also challenged the expansion of Medicaid, a federal-state partnership that provides health care to poor Americans. They argued that Congress unconstitutionally forced the expansion on the states by threatening to withhold billions of dollars in funds from states that refuse to cooperate.

The administration said the provision expanding Medicaid eligibility to cover individuals with income up to 133 percent of the federal poverty level was a valid exercise of Congress's power to set the terms in appropriating federal funds.

MUST THE PENALTY BE IMPOSED FIRST?

The Obama administration and some opponents of the law asked the court to address whether lawsuits challenging the mandate are barred because the penalty for not obtaining individual insurance has yet to be imposed.

At issue is a federal law aimed at preventing lawsuits from tying up tax collection and whether the challenges can only be decided after taxpayers actually begin paying the penalty for not purchasing insurance.

The administration said the law, the Anti-Injunction Act, did not require dismissal of the challenges to the mandate. But the administration said the Supreme Court should consider the issue and consider appointing a lawyer to make that argument.

ARGUMENTS LIKELY IN MARCH

The Supreme Court next month is expected to consider the various appeals, to officially agree to take up the law, and it could clarify the issues to be decided.

The next steps would be for legal briefs to be filed, the scheduling of oral arguments, most likely in late March, and a ruling expected by the end of June.

Legal experts said it was impossible to predict how the court might rule. A decision by the nine-member court, closely divided with five conservatives and four liberals, could come down to Chief Justice John Roberts and Justice Anthony Kennedy, who often casts the decisive vote, they said.

The Supreme Court cases are Thomas More Law Center v. Barack Obama, No. 11-117; National Federation of Independent Business v. Sebelius, No. 11-393; U.S. Department of Health and Human Services v. Florida, No. 11-398; Florida v. Department of Health and Human Services, No. 11-400; Virginia v. Sebelius, No. 11-420; and Liberty University v. Geithner, No. 11-438.

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Climate Activist Visits Wilderness Before Prison Term

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Tim DeChristopher was to go to prison, convicted of disrupting a government sale of oil and gas leases. He called his actions an act off civil disobedience against climate change. Prosecutors called them felonies. Ahead of his confinement, DeChristopher wanted to go on a final wilderness adventure.

Copyright © 2011 National Public Radio®. For personal, noncommercial use only. See Terms of Use. For other uses, prior permission required.

GUY RAZ, host: From NPR News, this is ALL THINGS CONSIDERED. I'm Guy Raz.

This summer, a federal judge in Salt Lake City sentenced a climate activist named Tim DeChristopher to two years in prison. His crime: disrupting an auction of government, oil and gas leases. DeChristopher was a 27-year-old college student in the closing days of the Bush administration when he bid for and won almost two-dozen parcels that he knew he couldn't pay for. He called it an act of climate civil disobedience.

A couple of months ago, a jury found him guilty of two felonies. Now, before his sentencing, the activist set out on a last wilderness adventure - the descent of a river in Utah.

An old friend of ALL THINGS CONSIDERED, reporter Alex Chadwick, was along.

ALEX CHADWICK: I'd been following energy stories in the West, which is how I met Tim DeChristopher and John Weisheit.

JOHN WEISHEIT: So the snow melt has started, and every day the river is going to rise until it's exhausted.

CHADWICK: That's John, used to be a river guide, now a river advocate - an activist.

WEISHEIT: And they're saying that this year will be a high year.

CHADWICK: You hear that (unintelligible). John is rowing us down the Green River in eastern Utah. It's peaceful, but that's going to change. The Green is a tributary of the Colorado, and we'll reach it in a few days and we'll start down Cataract Canyon, 20 miles of almost continuous rapids that John knows well.

WEISHEIT: I've done it so many times and I've done all the failures that can be done.

CHADWICK: Cataract Canyon is one of the most notorious runs in the country at normal water flow, and we will be way past that. Too late now, there's no way off the river but down it.

WEISHEIT: I'm not worried at all. I think we'll do fine.

CHADWICK: I'm less confident of the outcome, or really of anything else. John invited me on this trip because of my wife and radio partner, Carolyn. She died a year ago. I tried to save her for months and failed. I stopped working and couldn't start again. I've been lost. John thinks the river is restorative, healing. And it is the kind of place that Carolyn liked.

There are several other guides on the trip - it's fun to go when it's scary. And there's Tim DeChristopher, a former wilderness guide, about 30, solidly built, hair clipped as short as the stubble on his face, calm like a monk. With a degree in economics and two federal felonies, the sentence pending then.

TIM DECHRISTOPHER: I'm expecting around two or three years. But it's hard to say.

CHADWICK: The felonies are from a Salt Lake City oil and gas auction Tim disrupted with fake bids he couldn't pay. He says it was an unplanned, spontaneous act of climate protest.

DECHRISTOPHER: I lost hope in a lot of things. I lost hope in having any sort of normal future, anything that my parents would define as a normal future of, you know, a career and retirement, and a family and all that stuff.

CHADWICK: The auction and his arrest made Tim DeChristopher a hero among the Greens. He was someone willing to risk all and then risk again.

DECHRISTOPHER: I have no remorse at all for my actions.

CHADWICK: Courts looks for remorse.

DECHRISTOPHER: Yeah, I don't have it.

CHADWICK: I get it that he wants to run Cataract Canyon in high water. But no remorse may be even riskier. He's about to be sentenced. Contrition might help.

(SOUNDBITE OF SQUAWKING)

CHADWICK: The ravens. They're mad at us because we don't leave anything at our campsite. It's still several days to the rapids - water high, but smooth. And days settle in unhurried patterns - row, camp, fire, talk. I'm making notes and interviewing Tim, partly from habit, partly to see if I can still do it without Carolyn there.

DECHRISTOPHER: At the height of the Somali pirate thing a couple of years ago, the pirate leaders released a statement to the Western world where he said: You have no idea what life in Somalia is like. You can't possibly understand how desperate our situation is. And he said: Your power comes from your ability to take things away from people. And therefore you can't stop us, because you have nothing left to take away. And it was a statement that really struck me as really profound.

CHADWICK: The Greens need a charismatic leader, but this is a man with a very dark view - climate change as Apocalypse, rising seas, flood, drought, famine, all in decades. Further, Tim DeChristopher believes it's too late now to stop, and the danger isn't so much from climate. It's us, human societies under severe stress. It's what we will become, maybe something like the Dark Ages, that's what he thinks climate change will mean.

I wonder if the people you're targeting might not really enjoy hearing you say this. They'll say: Look, this guy is a radical, a self-described radical. And he's on the side of the Somali pirates, for God's sakes. If you want to be on that side, that's who you're standing with.

DECHRISTOPHER: From what I've seen, my opponents really don't like to have people hear what I have to say. They do like to, you know, try to put words into my mouth. You know, say, oh, he mentioned the Somali pirates and saw something profound in what they were saying, so therefore he's on their side. But they've actually really avoided spreading anything that I say.

I think they know that when people see someone like me as a person, and start to actually, you know, consider the things that I'm saying, it's hard to vilify someone like that. And I think that's dangerous to those in power, when the people on the bottom start to see that the people they're told to hate aren't really their enemy.

CHADWICK: Day seven. We reached the Colorado yesterday. The water is bigger, faster. It rained overnight, the wind tore down my shelter, storm bands keep coming, everyone looks rattier. It's just light now, a little after six. John Weisheit's wife is headed toward the boats.

Here comes an experienced river guide, Susette Weisheit. Susette, how does the river look today?

SUSETTE WEISCHEIT: Fantastic. I mean we're up, the river is cooking along. It surprised us all by coming up a little bit further than we thought it would, and kind of encroached on our camp. But, you know, more is better.

CHADWICK: More is better? Hmm.

WEISCHEIT: I love it.

CHADWICK: We are going down Cataract Canyon today at six times normal flow. Small driftwood trees rush by, parts of bigger ones. We air-pump the boats, so the rubberized skin is drum tight. John's boat is 17-feet long, the beam not half that. The river is 50-yards wide and it looks bad all the way across.

WEISHEIT: I've seen it this high a lot, and I know what's down here and what to expect. And so, it really doesn't terrify me anymore.

CHADWICK: The first big rapid, John shoves an oar hard, the boat finds a narrowing V. The water is fast, but the moment stretches like a dream, as though we're falling very slowly and there's always enough time to save ourselves.

(SOUNDBITE OF RUSHING WATER)

CHADWICK: Bam, bam, bam through a series of waves, and we pull to the riverbank out of the tumble and froth to the safe solidity of land. On a high point on the rocky slope ahead, we stand looking down at the ugly place we are about to go.

What rapid are you all talking about?

WEISHEIT: Well, that's Rapid Number 15. Some people call it Capsize. Some people call it Hell-to-Pay.

(SOUNDBITE OF LAUGHTER)

CHADWICK: A big piece of driftwood shoots through perfectly. Looks easy. Then a log the size of a person catches the channel wrong, hits a rock, rolls under, disappears.

WEISHEIT: How do you think we should run it?

WEISCHEIT: Hay-diddle-diddle...

WEISHEIT: What does that mean?

WEISCHEIT: Right down the middle.

(SOUNDBITE OF LAUGHTER)

WEISCHEIT: But there's a huge momma hole on the left side. So just don't get there.

CHADWICK: Watching them watch the river, I see the patterns. Even in the places that look crazy, some ways are better than others. Stay calm. See what's there. It's still dangerous, but it's more interesting than scary. And I'm thinking about Tim, and the judge, and the sentencing, and risk.

This is not a good time for him to be testing any more limits. But it's like the river you're caught in the currents. You can see the patterns, look for them, find the way.

DECHRISTOPHER: I think I can be dangerous to them in either place.

CHADWICK: He told me he's been talking with other activists about whether a political dissident can be more dangerous to the government in prison than out.

DECHRISTOPHER: There is certainly a power in an activist going to jail. I think it undermines the moral legitimacy of the current government if, in order to continue what they're doing, they have to put principled, honest people in jail. But, you know, I'll also continue organizing if they don't lock me up. So, I think it's a no-win for them. That's why it's a powerful thing if we're willing to actually make those sacrifices.

CHADWICK: A huge, dim mass ahead to the left, blurry under a layer of fast water. We're in a steep drop and behind the boulder, there's a hole like the gateway to another dimension. It's close enough to spit in. The boat hesitates and pushes by. That's the Buttonhook, John says, and he's looking down river at the next rapid coming on.

In prison, Tim will begin writing a book, a series of letters to his father. During the Salt Lake trial, his mother and sister came over from Denver for support. His father, a retired executive from the energy industry, did not.

When he talks to you about you about who you are and what you've done, what your beliefs are, do you understand him?

DECHRISTOPHER: I think I do. I think he comes from a genuine belief that we have a system that works and it has for him. You know, he came from a poor family and worked hard and studied hard and became an engineer. And, you know, moved up through the ranks and became secure and very comfortable. I guess I kind of view my father as a prototypical, comfortable liberal in America.

And I feel like that's the audience that I'm most drawn to addressing. And so, I think, you know, a book is a series of letters to him, you know, without the kind of emotional directness of our actual conversations. I think it might be a good way to address the comfortable liberal audience.

CHADWICK: When did you last speak with him?

DECHRISTOPHER: Christmas.

CHADWICK: That's a long time.

DECHRISTOPHER: Yup.

CHADWICK: But maybe it's not so long. Carolyn died nine months earlier and she's still present, always. Early in the morning of the last day, I tell her about this trip that she should have joined. We'd run Cataract Canyon the day before in six hours. We're loading boats again now and I find my friend, the river guide, John Weisheit.

DECHRISTOPHER: I'm trying to remember that thing that you told me that you have to do when things get really bad.

WEISHEIT: Oh, yes. Sometimes, things don't happen very well on the river and boats slip or driftwood gets in the way and one of the things that I've learned through the years is, when things get, like, you're actually combating nature and you're not getting anywhere, it's best to surrender. When you're out here, there's nothing wrong with surrender. It's actually a good idea.

CHADWICK: The next day, Tim and I share a ride a ride back to Salt Lake. We talk about prison, about being in, waiting to get out, about patience and finding that line through the bad parts where the patterns start to blur and it will help, maybe, to remember what happens on the river.

(SOUNDBITE OF MUSIC)

RAZ: Producer Alex Chadwick gathered material for his story this summer. Tim DeChristopher is now serving a two-year sentence in federal prison in California.

(SOUNDBITE OF MUSIC)

RAZ: You're listening to ALL THINGS CONSIDERED from NPR News.

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Cancer kills Nobel physician before he hears of prize

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Nobel prize for medicine winner Canadian-born Ralph Steinman.

Credit: Reuters/Zach Veilleux/Rockefeller University

By Patrick Lannin and Mia Shanley

STOCKHOLM | Mon Oct 3, 2011 4:16pm EDT

STOCKHOLM (Reuters) - A scientist who won the Nobel prize for medicine on Monday used his own discoveries to treat himself for cancer, but died of the disease just days before he could be told of the award.

Calling it "bittersweet" news, colleagues of Canadian-born Ralph Steinman at New York's Rockefeller University said he had prolonged his own life with a new therapy based on his prize-winning research into the body's immune system.

The 68-year-old physician, who joked last week with his family about hanging on until the annual prize announcement, died on Friday after a four-year battle with pancreatic cancer.

He never knew his life's work was crowned with the highest accolade science can bestow, becoming the first man in half a century to win a posthumous Nobel prize after a day of confusion in Stockholm, where the Nobel Committee rules have long insisted, in principle, on recognizing only living laureates.

"We wanted him to be here for this," said his daughter Alexis Steinman, 34. "We were like 'OK Dad, I know things aren't going well but the Nobel, they are going to announce it next Monday'. And he's like: 'I know I have got to hold out for that. They don't give it to you if you have passed away.

"'I got to hold out for that.'"

The Nobel Committee spent the morning calling Steinman to offer the traditional congratulations before discovering they faced a "unique" situation. Hours of urgent talks with lawyers on the fate of the prize money, worth three quarters of a million U.S. dollars, finally saw them decide to hand it to Steinman's heirs.

Two other pioneers whose work on the immune system has also driven ground-breaking possibilities for curbing infections and cancers, American Bruce Beutler and Jules Hoffman from France, shared the other half of the 10 million-crown prize.

"It's really impossible to describe how our family is feeling right now. We're devastated to have lost Ralph," Steinman's son Adam told reporters in New York. "We're so incredibly proud of dad for receiving this wonderful honor ... We know he will live on through his scientific contributions."

Steinman's research contributed to the launch last year of the first vaccine designed to kill tumors.

"BITTERSWEET NEWS"

Colleagues said he was working until his final days.

Admitted to hospital last Sunday, he lost consciousness on Thursday and died surrounded by family the following day. But Rockefeller University president Marc Tessier-Lavigne said the university only heard of his death from the family about half an hour after news of the Nobel prize came out from Sweden.

Nobel Committee secretary general Goran Hansson told Reuters: "I am, of course, saddened that Dr Steinman could not receive this news and feel that happiness.

"He was a great scientist."

After examining a rule which bars giving the prize to the dead, and a second which says a laureate nonetheless keeps the prize if they die between the announcement and the award ceremony held some weeks later, the committee said it found the latter rule to be more fitting to Steinman's case.

"The Nobel Prize shall not deliberately be awarded posthumously. However, the decision to award the Nobel Prize to Ralph Steinman was made in good faith, based on the assumption that the Nobel laureate was alive," the committee said.

His university said: "Steinman ... was diagnosed with pancreatic cancer four years ago, and his life was extended using a dendritic-cell based immunotherapy of his own design."

Those cells, which the Montreal-born Steinman discovered in the 1970s, are vital to the attack the body launches on tumors and infections if they breach its first line of immune defense.

The other prizewinners, Beutler and Hoffmann, studied the first stages of the body's immune responses in the 1990s.

Lars Klareskog, who chairs the Nobel prize panel, said: "I am very excited about what these discoveries mean.

"We will have new, better vaccines against microbes and that is very much needed now with the increased resistance against antibiotics."

Beutler, 53, is based at the Scripps Research Institute in La Jolla, California. Luxembourg-born Hoffmann, 70, conducted much of his work in Strasbourg.

SELF-Defense

The work of all three prizewinners has been pivotal to the development of improved types of vaccines against infectious diseases and novel approaches to fighting cancer. The research has helped lay the foundations for a new wave of "therapeutic vaccines" that stimulate the immune system to attack tumors.

Better understanding of the complexities of the immune system has also given clues to treating inflammatory diseases, such as rheumatoid arthritis, in which the body's defense system ends up attacking its own tissues.

Beutler told Reuters his work "might lead to new treatments for inflammatory and auto-immune disease and possibly new treatments for other kinds of diseases as well."

In the United States, the Leukemia and Lymphoma Society said the trio's work "formed the foundation of immunotherapy which holds great promise for the cancer community."

Beutler and Hoffmann discovered in the 1990s that receptor proteins act as a first line of defense, innate immunity, by recognizing bacteria and other microorganisms. Steinman's work, explained how, if required, dendritic cells in the next phase, adaptive immunity, kill off infections that break through.

The research ultimately led to the launch of the first therapeutic cancer vaccine last year, Dendreon's Provenge, which treats men with advanced prostate cancer.

It was unclear how Steinman had treated his own pancreatic cancer -- a notoriously deadly form of the disease. The development of treatments from research can take many years. Former student Michel Nussenzweig said Steinman's discovery was only now reaching that stage after a particular wait.

"No one believed it for a really long time," Nussenzweig said of the work on cells. "His dream was to use his discovery to develop vaccines and it's a dream that's pretty close."

Medicine is usually the first of the Nobel prizes awarded each year. They were first awarded in 1901 using a bequest from dynamite inventor Alfred Nobel.

The only previous posthumous awards were to Swedes: poet Erik Axel Karlfeldt, for literature, in 1931; and U.N. chief Dag Hammarskjold, given the 1961 peace prize weeks after dying in a plane crash while on a peacemaking mission in Africa.

(Additional reporting by Ben Hirschler in London, Michelle Nichols in New York and Anna Ringstrom in Stockholm; writing by Alastair Macdonald; editing by Andrew Roche)

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