Dilemmas of destiny

first_imgLila (the patient’s name has been changed) was only in her 20s when she learned that she could be at increased risk for breast cancer. A genetic test had revealed that her mother carried a mutation signaling a heightened risk for the disease. But Lila opted to live with uncertainty — and the hope it engendered — a little longer. She wouldn’t test, but she would be vigilant, opting for frequent mammograms.At age 34, Lila, now the mother of two small children, learned she had breast cancer. Personalizing her treatment would require genetic testing. This time she consented. The procedure verified the mutation and revealed another detail: Her tumor flourished with exposure to hormones.“She knew the mutation increased her risk for a second cancer, so she chose bilateral mastectomy,” says Judy Garber, a Harvard Medical School (HMS) associate professor of medicine at Dana–Farber Cancer Institute and Brigham and Women’s Hospital. But because the tumor was hormone-receptor-positive, Lila faced another decision: take drugs to cut her hormone levels, or have the source of those hormones, her ovaries, removed. She chose the surgery.Garber, who directs the Cancer Risk and Prevention Program at Dana–Farber, describes Lila’s decisions as aggressive for a young woman, even one burdened with a mutation promising a lifelong threat of cancer. Could her choices have been driven by her desire to remain a mother to her children for as long as possible?“Oh, of course,” says Garber, adding softly, “For young mothers, that’s often the issue.”Lila’s story underscores how genetic diseases thread throughout a family and how decisions made by individuals — to test, to treat, to disclose — are fraught with difficulties and emotions that can strain, and sometimes break, family ties. The reach of genetic diseases goes beyond the individual, often visiting ethical dilemmas upon a patient’s entire family.Over the past three decades, genetic testing and its offspring — personalized medicine — have matured; tests for more than a thousand diseases are now available. Yet while the ability to identify genetic signposts for patients allows doctors to recommend screening, offer preventive surgeries, and fine-tune drug treatments, that same ability delivers unsettling futures to those with genetic evidence of diseases that as yet have no cure, such as Huntington’s disease, cystic fibrosis, hemophilia, and Alzheimer’s disease.Often, patients and doctors become entangled in such issues as how to best share at-risk information, access treatment options, and weigh decisions about hidden threats to the young and unborn. And sometimes these issues mushroom, becoming quandaries for society as a whole.It’s a family affairPatients rely on physicians to deliver medical news directly and in confidence, good or bad. Medicine’s growing ability to plumb a person’s genetic information, however, can challenge this expectation.“People are accustomed to keeping some details private,” says Ting Wu, an HMS professor of genetics and director of the Personal Genetics Education Project. “But genetic information is explicit; it speaks to pedigree.”Wu notes that while patients might seek genetic testing as a means of customizing their treatment and prevention strategies, others — particularly at-risk family members — may be less amenable to testing and the possibility of news of an incurable condition.“Patients realize that information can sometimes be used in a way that hurts someone,” says Wu. “That possibility — and that fear — can present a slippery slope: The more we learn, the more information we have to use, properly or improperly.”How deeply those details penetrate family defenses can be found in a story Wu cites of a 23-year-old woman who chose to be tested for Huntington’s disease. The young woman’s grandfather had been ravaged by the rare brain disorder for three decades, a maternal aunt had tested positive for it, and she was now witnessing a cousin’s debilitation. Her mother, however, refused to test and became embattled with her daughter over the issue. Undeterred, the young woman went ahead with her plans. She learned she carried the gene — as did her mother, by implication. Her mother severed their ties, unable to forgive her daughter for inflicting upon them both what she viewed as future-robbing news.A fine lineKenneth Offit ’81, chief of the Clinical Genetics Service at New York City’s Memorial Sloan–Kettering Cancer Center, has seen the difficulties that disclosure can bring to families. “When it comes to handling the results of genetic testing,” he says, “health professionals must respect the boundaries imposed by the ethical practice of medicine by encouraging, but not coercing, patients to share their news with family members.” But when the patient can’t meet that responsibility, the custodianship of genetic information — and the duty to warn — may be left to the physician.“Two decades ago, a breast cancer patient we’d enrolled in a study of the genetic risks of certain cancers died before learning she had a mutation linked to her cancer,” Offit recalls. “We needed to tell her daughters of their own risk — but we didn’t know their locations.”Offit called the woman’s mother to explain his need to contact her granddaughters. She rejected his plea and ignored his follow-up letter. Years later, after she had died, the daughters found a letter that Offit had written — and showed up at his clinic. One daughter tested positive for the mutation and began regular screening.Offit once told this story to a group of lawyers to illustrate how he had tried to fulfill his duty to warn. Terse, unsettling comments followed. One lawyer chided him for failing to hire a private detective, find the daughters, and tell them their risks. Another frostily said she would have offered to represent the daughters should they have developed breast cancer before they were notified and elected to sue.Open housePhysicians aren’t the only ones tussling at the ethical edges of genetic testing. Patients, too, wrestle with such dilemmas. They share test results to warn siblings and cousins, help adult children make childbearing decisions, or explain their medical care to others. But patients also withhold information to avoid causing alarm and to notify only those relatives at greatest risk. Information sharing may hit additional barriers, both real and perceived, such as geographic distance, adoption, and stigma.Disclosure requires a middleman when the patient is very young. Parents must act on behalf of newborns, children, and adolescents whose genetic disorders may not manifest until adulthood. “We often avoid testing children unless it’s absolutely necessary,” says Joseph Thakuria, an HMS instructor and clinical geneticist at Massachusetts General Hospital. “We worry about how testing can negatively affect this population.”Thakuria, who trains medical students and house staff as well as genetic counselors, says that his worries about stigma and self-concept sometimes begin with the parents. “It’s not unusual for one to say to the other, ‘It’s from your side of the family.’ Usually it’s said half-jokingly, but I always try to nip that thought in the bud.”He does so by sharing a fact: We are all carriers. Geneticists estimate that each of us has 6 to 25 genes that, under the right conditions, could trigger a disorder or disease in a person or in his or her offspring. Understanding this helps move parents away from shock, guilt, and grief and into proactive postures, such as joining a support group, learning about treatments and interventions, and safeguarding their child’s quality of life.Protective servicesProtecting quality of life for all who undergo genetic testing has gained legal ground in recent years. Worries about institutional discrimination that might deny medical coverage, employment, and equitable access to the benefits of personalized medicine have been eased in the United States by provisions forged in the Genetic Information Nondiscrimination Act, or GINA, and in the recent health care reform legislation.Since 2008, GINA has accorded genetic information the same privacy protections that the Health Insurance Portability and Accountability Act, or HIPAA, has provided to medical data. GINA has also prohibited genetic discrimination by health insurers and employers.GINA does not, however, affect life, disability, or long-term care insurance. Nor does it prevent insurers from determining eligibility or rates based on a person’s gene-linked disease or disorder that has already manifested. And while GINA mandates payments for tests for mutations linked to diseases such as breast cancer and colon cancer, it doesn’t require coverage for preventive interventions.Health care reforms signed into law in 2010 may help flesh out just what personalized medicine can and can’t deliver. The reform act creates an independent Patient-Centered Outcomes Research Institute charged with examining the use and comparative effectiveness of medical products and services within groups differentiated along traditional lines — such as race, sex, and age — as well as new ones distinguished by genetic and molecular characteristics.Society’s acceptance of personal genomics will surface in its laws, says HMS geneticist Wu. Preimplantation genetic diagnosis, for example, which screens for genetic diseases in embryos used for in vitro fertilization, may come under scrutiny. Studies have found that parents see an advantage to this screening procedure if it means they can avoid receiving a prenatal diagnosis requiring them to consider terminating a pregnancy. But others fear that choosing an embryo based on its genetic makeup is mere prelude to selecting for gender, IQ, and eye color — in short, a slide toward eugenics.For Wu, education is the right response. “We need to understand the social, legal, and ethical outcomes of our decisions,” she says. “When we know the issues surrounding genetic testing, we’ll consider carefully before judging the decisions of others. For when we categorize others, we categorize ourselves.”Ann Marie Menting is associate editor of Harvard Medicine.last_img read more

Brandon Ingram ready to step up for Lakers this summer

first_imgEL SEGUNDO >> When Lonzo Ball chose which locker he would use to hang his jersey and place his gym bag, his decision was practical, but also symbolic.The Lakers’ 19-year-old rookie point guard views his locker at the team’s practice facility as more than simply a place to store his uniform and shoes. He sees that space as a place where he can have countless conversations with a teammate who can help aid his development.After predicting second-year forward Brandon Ingram is “going to be a superstar in this league,” Ball made sure his locker was next to Ingram’s. That way, Ingram can help Ball become a superstar, too.“We pretty much talk all the time,” Ball said. “He’s a good dude.” AD Quality Auto 360p 720p 1080p Top articles1/5READ MOREUCLA alum Kenny Clark signs four-year contract extension with PackersThe Lakers see Ingram as a good dude, too. After being selected No. 2 overall in the 2016 NBA draft, Ingram landed on the league’s all-rookie second team last season thanks to qualities that go beyond the modest numbers he posted in points (9.4), shooting percentage (40.2) and rebounds (4.0).Ingram impressed the Lakers with his positional versatility, ball-handling, defense and finishing, but he has another responsibility to master in his second NBA season. When the Lakers open play in the Las Vegas Summer League against the Clippers at 5:30 p.m. today, Ingram will find himself in the role of a seasoned veteran at 19 years old.“Just with the year I have in this league, I can help him a little bit and tell him what to expect and how to go about the game,” Ingram said. “Now I have information I can give back with the opportunity to try to lead some of these guys, and put them in the right positions on the basketball floor and off the basketball floor.”That process already started with Ball’s locker selection, which Ingram said sparked “good communication” with this year’s No. 2 pick. It seemed fitting considering Ingram assumed Kobe Bryant’s locker last year, a not-so-subtle suggestion of who the Lakers hoped would lead their franchise following the retirement of the future Hall of Famer.No one will mistake the soft-spoken Ingram for the brash Bryant. But after seeing Ingram become more vocal during offseason scrimmages, Lakers assistant coach Jud Buechler expects him to remain as assertive. “He’s slowly wanting to take over the reins here and not do it super aggressively here and be out of line, but it’s really his team,” said Buechler, who will coach the Lakers’ summer league squad. “This is his team this summer to be in charge of. I’m super happy about all that. That’s part of his growth, to learn more about that role and how to lead a team. He’s going to do a great job.”The Lakers thought Ingram showed plenty of growth during his rookie season. As Buechler observed, “Brandon works as hard as anybody.” By all accounts, Ingram channeled his free time into working on his game at the practice facility rather than chase the temptations Los Angeles has to offer the young and privileged. Since the season ended, Ingram has been working with assistant coach Brian Keefe on his shooting form.While the Lakers watched Ingram strive for self-improvement, they admired how he patiently waited for his role to blossom from reserve to starter, from an occasional scoring option to a more prominent one. Buechler said Ingram “kind of sat back and tried to figure it out last year.”This year, Ingram does not seem as inclined to wait.“It definitely helps me have a different mentality and different focus on this game, even coming here every single day, doing what I’ve been doing with my routine and eating more to show these guys what it takes to be in this league,” Ingram said. “I’m having an attack mentality, knowing it’s a different year.“I know I’m going to have a big jump this year.”Ingram has given the Lakers every reason to believe he will back up those words.“You have to go out and you have to do it on the court,” Buechler said. “You can talk all you want in the locker room about this and that. But if you don’t go on the court and do it by example, I don’t think guys will follow you. He does it by example. He has both. We really want him to expand that role on his team.”The Lakers probably will have to grade Ingram’s summer league performance on a curve. Ingram expects to fare better than last year, when he averaged 12.2 points and 4 rebounds while shooting 41.2 percent, but he has committed to play in only their first three games today (Clippers), Saturday (Boston) and Monday (Sacramento).For preservation purposes, the Lakers are expected to sit Ingram for the latter portion of their summer league schedule. Since the Lakers have not finalized their plans, Buechler joked he will play Ingram 40 minutes for every single summer league game.“No one from upstairs has really talked to me about that. I’m sure they will,” Buechler said. “My intention is to go and win summer league. We need to start.”That’s because Buechler is mindful of the Lakers’ front office changes. In February, Lakers president Jeanie Buss replaced her brother Jim with Magic Johnson as the president of basketball operations. Buss also fired longtime general manager Mitch Kupchak and replaced him with longtime player agent Rob Pelinka.“One of the big things that Rob talks about is our mentality of winning here,” Buechler said. “I think it starts right now during this summer league. We’re going there to win the summer league. I hope those guys play in every game. If they don’t, then we’ll shut them down and go with the other guys. But that’s the mentality going in.”Meanwhile, Ingram plans to show the same mentality that prompted Ball to saddle up next to his locker.“It’s great that he says he wants to play with me,” Ingram said of Ball. “He’s a guy you want to play with, the way he passes the ball and is very unselfish. He can get after it on the defensive end.”Ball has said the same thing about Ingram, who will continue to impart wisdom as they prepare for the season ahead. Even if it takes time for Ingram to raise his voice among his peers, his locker will be close enough to Ball’s that the rookie can still hear him.center_img Newsroom GuidelinesNews TipsContact UsReport an Errorlast_img read more

Conte concedes ‘unstoppable’ City too good for Chelsea

first_img“When you match quality with mentality, you become unstoppable.”City now need a maximum of four wins from their last nine league games to seal the title and even manager Pep Guardiola admitted he is surprised by the extent of City’s dominance. And the Italian’s negative approach came under scrutiny after the visitors failed to register a shot on target after he again opted to start without a recognised centre-forward by leaving Alvaro Morata and Olivier Giroud on the bench.“Today they showed the difference between them and us in this moment,” said Conte.“Twenty-five points is a big gap and I think that we can have a regret for the other games but not for this one.“The effort of the players was an important effort. When you play against Manchester City, this type of team, they are showing fantastic quality but also fantastic mentality. Manchester, United Kingdom | AFP | Chelsea manager Antonio Conte conceded his side were powerless against an “unstoppable” Manchester City who opened up an 18-point Premier League lead with a 1-0 home win on Sunday.Bernardo Silva scored the only goal of the match 35 seconds into the second half at the Etihad Stadium when he prodded home at the back post from David Silva’s low cross.Chelsea’s fourth defeat in five league games left Antonio Conte’s reigning English title-holders five points adrift of the top four.center_img “No way. Who could believe it?” Guardiola said of his side amassing 78 points from 29 games. “I think if you ask the players, the players neither.”Guardiola celebrated wildly at the full-time whistle as he senses his first Premier League title is now a matter of weeks away.And he hailed his players’ relentlessness not to let up despite their mammoth lead.“I think we made an amazing performance because (it) is against Chelsea, the last champion.“We were aggressive, we had desire, we had commitment to show we want to do it again and again, and that’s why we won.”Share on: WhatsApp Pages: 1 2last_img read more

Victory for England and another clean sweep

first_img30 Sep 2015 Victory for England and another clean sweep England won a tight match against Ireland 5-3 to successfully retain the Senior Women’s Home Internationals – and complete a second successive national clean sweep.English senior amateur champion Helen Lowe won the 18th and her game to seal the victory for the team at Elm Park Golf Club, Ireland.It’s the team’s ninth win since this championship began in 2003 and it means England have won the complete set of girls’, women’s and senior Home Internationals for the second year in a row.England captain Pat Wrightson, who earlier in the season steered the team to a European silver medal, commented: “It was an excellent effort by the team and it’s been a pleasure to be their captain.”England were put on the back foot on the first day of the tournament when they were held to a draw by Wales. They came straight back with a convincing win on the second day against Scotland; but Ireland, the European bronze medallists, had opened with two good wins.It meant that England had to win today’s title decider while Ireland – champions in 2012 and 2013 – would take the trophy with a win or a halved result.England set out with a strong foursomes performance and won the top two matches. Caroline Berry and Lulu Housman completed a perfect foursomes record with three wins from three outings and, like Julie Brown and Helen Lowe, were never behind in their game.In the singles, Cath Rawthore won the first two holes and stayed ahead for her game, eventually winning 4/3. Lindsey Shaw, by contrast, lost the first but quickly righted matters and was ahead after the third, never dropping behind again, winning 2/1.Helen Lowe’s match was always tight and there was never more than a hole in it. The players were all square after the 13th, with the next four holes all halved, but Lowe broke the deadlock with a win on the 18th to grab her point and confirm the team’s victory.The England team, captained by Pat Wrightson (Huddersfield), is: Caroline Berry (Bromborough), Julie Brown (Trentham), Sue Dye (Delamere Forest), Lulu Housman (Wyke Green), Helen Lowe (Scraptoft), Cath Rawthore (Sale), Lindsey Shaw (Chevin).Image (courtesy LGU) from left: Helen Lowe, Lulu Housman, Lindsey Shaw, Julie Brown, Caroline Berry, Pat Wrightson, Sue Dye and Cath Rawthore.01 October 2015 Stunning singles play from EnglandDefending champions England put on a stunning singles performance today to inflict a heavy defeat on Scotland in the Senior Women’s Home Internationals.The England players won all five of the singles, with the closest being decided on the 16th, and added it to their shared foursomes points for a 6½-1½ victory.Tomorrow they play the hosts, Ireland, in a title decider at Elm Park Golf Club. Ireland have two wins from the two matches played so far, while England have won one and halved one.If England win tomorrow they will retain the title. A loss or a halved match will hand the trophy to Ireland.England captain Pat Wrightson said: “It was a tremendous team effort today to win by 6½ to 1½. Tomorrow will be an exciting match against Ireland to decide the winners of the 2015 Home International matches.”This morning Lulu Housman and Caroline Berry continued to play excellent foursomes to score a 2/1 win, while Julie Brown and Lindsey Shaw secured a valuable half.In the afternoon the players were in control of their matches with par golf. Helen Lowe almost holed in one at the 5th hole and Lindsey Shaw finished her match in style by almost holing her tee shot at the 16th.There was a series of big winning margins: British senior champion Julie Brown won her singles 7/6; Lulu Housman and Caroline Berry both won 5/3; Helen Lowe won 4/3; and Lindsey Shaw 3/2. 30 September 2015England’s title defence begins with a drawEngland were held to a draw by Wales today as they began their defence of the Senior Women’s Home Internationals at Elm Park Golf Club in Ireland.The titleholders lost the morning foursomes 2-1, with their point scored by Caroline Berry and Lulu Housman. England were unlucky to lose to the third game, but Sharon Roberts of Wales holed a putt of 40ft for a birdie on the 17th to go one up and a half at 18 gave Wales their second win of the morning.However, England won the singles 3-2 to square the match. British senior champion Julie Brown led the afternoon charge, winning 8/6. She was six-under par for the 12 holes, notching up seven birdies and chipping in twice. Cath Rawthore – last year’s British champion – played par golf to win her match by 6/5 and Lindsey Shaw was on solid form to win 4/3.In the day’s other match the hosts, Ireland, whitewashed Scotland 8-0.“It’s still all to play for over the next two days,” said England captain Pat Wrightson.The England team, captained by Pat Wrightson (Huddersfield), is: Caroline Berry (Bromborough), Julie Brown (Trentham), Sue Dye (Delamere Forest), Lulu Housman (Wyke Green), Helen Lowe (Scraptoft), Cath Rawthore (Sale), Lindsey Shaw (Chevin)last_img read more

Young Concert Artist Winner To Perform At The Washington Center

first_imgFacebook0Tweet0Pin0 Submitted by The Washington Center for the Performing ArtsJanuary 31 at 7:30 pmFirst Prize Winner of the 2011 Young Concert Artists International Auditions, violist Veit Hertenstein is one of the most exciting musicians on his instrument to emerge in years.  He has already garnered recognition for his exciting stage presence and virtuoso artistry.   Highlights this season debut include recitals at the Isabella Stewart Gardner Museum, the Buffalo Chamber Music Society, the Washington Center for the Performing Arts, and the Levine School of Music as well as performances at the Davos Festival in Switzerland, and the Usedom Festival and the Festspiele Mecklenburg-Vorpommern in Germany.Mr. Hertenstein will make his New York debut at Merkin Hall in the Peter Jay Sharp Concert and his Washington, D.C. debut at the Kennedy Center’s Terrace Theater next season presented by the Young Concert Artists Series.  He was also awarded YCA’s Slomovic Prize and seven performance prizes.  Mr. Hertenstein has participated in the Marlboro Festival, the Menuhin Festival in Gstaad and the Verbier Festival in 2009 and 2010, where he was awarded the “Henri Louis de la Grange” special viola prize.  He appeared at Seiji Ozawa’s International Music Academy in Rolle, Switzerland in 2008.  As a guest artist, Mr. Hertenstein has appeared with the Trio Wanderer, the Modigliani Quartet, and has performed chamber music and conducted educational outreach with the violinist Midori in Japan in 2010.In addition to winning a viola concerto commission from Pro Helvetia to be written by Swiss composer Nicolas Bolens, Mr. Hertenstein has won several important competitions.  In 2009 he was the first violist ever to win the New Talent Competition of the European Broadcasting Union, founded by Sir Yehudi Menuhin in 1969, which led to radio broadcasts throughout Europe.  That same year Mr. Hertenstein was a prize-winner of the first Tokyo International Viola Competition, which led to performance at La Folle Journée festivals in Nantes, France and Tokyo in 2010 and 2011, as well as an appearance at the Viola Space Festival in Tokyo in 2011 where he also conducted master classes.  In 2007 he was the first violist to win First Prize at the Orpheus Competition in Zurich, which brought his debut recording on Euro-Classics.Mr. Hertenstein has performed in master classes for György Kurtag, Krzysztof Penderecki, Gabor Takács-Hagy, Yuri Bashmet, and Kim Kashkashian and in turn has taught master classes at the Shanghai Conservatory.Born in 1985 in Augsburg, Germany, Mr. Hertenstein began studying the violin and piano at the age of 5 and switched to the viola when he was 15.  At the age of 19, he studied with Nicolas Corti, violist of the Amati Quartet at Zurich Hochschule der Künste.  In 2009 he earned an artist diploma at the Haut Ecole de Musique in Geneva working with violist Nobuko Imai and with Miguel da Silva, violist of the Ysaye Quartet.  He plays a 1701 David Tecchler viola.Tickets are $16.00 Adults and $5.00 Youth.  Please contact the Box Office at 360-753-8586 or www.washingtoncenter.org for ticket sales.last_img read more