Zacks Investment Research lowered shares of Abeona Therapeutics (NASDAQ:ABEO) from a buy rating to a hold rating in a research note published on Tuesday morning, Zacks.com reports.

According to Zacks, Abeona Therapeutics, Inc. is engaged in developing and delivering gene therapy and plasma-based products for rare diseases. Abeona Therapeutics Inc., formerly known as PlasmaTech Biopharmaceuticals, Inc., is based in Dallas, United States.

Other research analysts have also issued research reports about the stock. BidaskClub upgraded shares of Abeona Therapeutics from a sell rating to a hold rating in a research note on Monday, June 17th. Royal Bank of Canada lowered their price objective on shares of Abeona Therapeutics to $16.00 and set a positive rating on the stock in a research note on Tuesday, August 13th. They noted that the move was a valuation call. Cantor Fitzgerald lowered shares of Abeona Therapeutics from an overweight rating to a neutral rating in a research note on Monday, August 12th. Maxim Group lowered shares of Abeona Therapeutics from a buy rating to a hold rating in a research note on Thursday, August 15th. Finally, ValuEngine upgraded shares of Abeona Therapeutics from a hold rating to a buy rating in a research note on Wednesday, October 2nd. Five investment analysts have rated the stock with a hold rating and four have assigned a buy rating to the stock. The stock currently has an average rating of Hold and an average target price of $17.21.

NASDAQ ABEO opened at $2.71 on Tuesday. Abeona Therapeutics has a 12 month low of $1.46 and a 12 month high of $10.62. The company has a debt-to-equity ratio of 0.06, a current ratio of 2.54 and a quick ratio of 2.54. The firm has a market capitalization of $110.47 million, a PE ratio of -2.28 and a beta of 1.95. The companys 50 day simple moving average is $2.51 and its 200 day simple moving average is $4.68.

Abeona Therapeutics (NASDAQ:ABEO) last posted its quarterly earnings data on Friday, August 9th. The biopharmaceutical company reported ($0.49) EPS for the quarter, missing the Zacks consensus estimate of ($0.36) by ($0.13). Sell-side analysts anticipate that Abeona Therapeutics will post -1.7 earnings per share for the current fiscal year.

A number of institutional investors have recently bought and sold shares of ABEO. Marshall Wace LLP grew its position in Abeona Therapeutics by 45.9% during the 2nd quarter. Marshall Wace LLP now owns 13,254 shares of the biopharmaceutical companys stock worth $63,000 after purchasing an additional 4,168 shares in the last quarter. Tower Research Capital LLC TRC boosted its stake in shares of Abeona Therapeutics by 434.6% during the 2nd quarter. Tower Research Capital LLC TRC now owns 8,719 shares of the biopharmaceutical companys stock valued at $42,000 after buying an additional 7,088 shares during the period. Northern Trust Corp boosted its stake in shares of Abeona Therapeutics by 2.0% during the 2nd quarter. Northern Trust Corp now owns 408,134 shares of the biopharmaceutical companys stock valued at $1,951,000 after buying an additional 7,824 shares during the period. Charles Schwab Investment Management Inc. boosted its stake in shares of Abeona Therapeutics by 13.6% during the 2nd quarter. Charles Schwab Investment Management Inc. now owns 77,765 shares of the biopharmaceutical companys stock valued at $372,000 after buying an additional 9,281 shares during the period. Finally, Ardsley Advisory Partners LP boosted its stake in shares of Abeona Therapeutics by 33.3% during the 2nd quarter. Ardsley Advisory Partners LP now owns 40,000 shares of the biopharmaceutical companys stock valued at $190,000 after buying an additional 10,000 shares during the period. Hedge funds and other institutional investors own 58.71% of the companys stock.

Abeona Therapeutics Company Profile

Abeona Therapeutics Inc, a clinical-stage biopharmaceutical company, focuses on developing and delivering gene therapy products for severe and life-threatening rare diseases. The company's lead programs are EB-101 (gene-corrected skin grafts) for recessive dystrophic epidermolysis bullosa (RDEB); ABO-102, which are AAV based gene therapies for Sanfilippo syndrome type A; and ABO-101, an adeno-associated virus (AAV) based gene therapies for Sanfilippo syndrome type B.

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Abeona Therapeutics (NASDAQ:ABEO) Downgraded to Hold at Zacks Investment Research - Covington Journal

Recommendation and review posted by Bethany Smith

ANI | Updated: Oct 16, 2019 15:53 IST

Washington D.C. [USA], Oct 16 (ANI): Apart from affecting health and well-being, social isolation can also lead to osteoarthritis (arthritis) in older adults, suggests a recent study. People who have arthritis often have other health issues which may increase their risk of becoming socially isolated. These include anxiety and depression, being afraid to move around (because arthritis makes moving painful), physical inactivity, and being unable to take care of themselves.Some 30 per cent of adults aged 65 and older have arthritis to some degree, especially in their leg joints. Despite that, until now there has been little research on the relationship between arthritis and social isolation.In the study published in the journal of the American Geriatrics Society, researchers examined the information from the European Project on OSteoArthritis (EPOSA) study. They wanted to learn whether there is an association between arthritis and social isolation and to identify the disease's contribution to social isolation.The researchers wanted to know whether the participants were socially isolated at the beginning of the study as well as 12 to 18 months later. To do so, the researchers used questionnaires that logged how often and how many times the participants connected socially with friends and family members.They also learned how often the participants volunteered or participated in social activities.Half the participants were women, and almost 30 per cent had arthritis. At the start of the study, almost 20 per cent of the participants were socially isolated.Those who weren't socially isolated tended to be younger had higher incomes and more education. They were also more likely to be physically active, had less physical pain, had faster walking times and were in better all-around health.Of the 1,585 participants who weren't considered socially isolated at the beginning of the study, 13 per cent had become socially isolated 12 to 18 months later.They reported that their health and osteoarthritis had worsened, they were in more pain, had become less physically active, had slower walking times, and had depression and problems with thinking and making decisions.The researchers said that their study shows that osteoarthritis increases the risk of social isolation. Having problems with thinking and making decisions, as well as having slower walking times, is associated with an increased risk of becoming socially isolated, they said.Because social isolation can worsen your health, the researchers suggested that older adults with arthritis perhaps could benefit from physical activity and participating in social activities.Specifically, they suggested, healthcare providers might refer people to senior centres where activities are specially designed for people with arthritis. (ANI)

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Social isolation can increase risk of osteoarthritis: Study - ANI News

Recommendation and review posted by Bethany Smith

Axovant Gene Therapies (NASDAQ:AXGT) was downgraded by Zacks Investment Research from a buy rating to a hold rating in a research report issued to clients and investors on Tuesday, Zacks.com reports.

According to Zacks, Axovant Sciences Ltd. is a biopharmaceutical company which focuses on the acquisition, development and commercialization of therapeutics for the treatment of neurodegenerative disorders. Its product candidate includes RVT-101 which is in different clinical trial for the treatment of Alzheimers disease and other forms of dementia. Axovant Sciences Ltd. is based in Hamilton, Bermuda.

Other research analysts have also recently issued reports about the company. Svb Leerink assumed coverage on Axovant Gene Therapies in a research note on Friday, June 21st. They issued an outperform rating and a $18.00 price objective for the company. Leerink Swann assumed coverage on Axovant Gene Therapies in a research note on Friday, June 21st. They issued an outperform rating and a $5.79 price objective for the company. Cowen restated a hold rating on shares of Axovant Gene Therapies in a research note on Tuesday, July 9th. Robert W. Baird upgraded Axovant Gene Therapies from a neutral rating to an outperform rating and reduced their price objective for the stock from $16.00 to $13.00 in a research note on Monday, August 12th. Finally, ValuEngine upgraded Axovant Gene Therapies from a sell rating to a hold rating in a research note on Thursday, August 1st. Three equities research analysts have rated the stock with a hold rating and eight have assigned a buy rating to the company. The company presently has an average rating of Buy and an average price target of $26.91.

Axovant Gene Therapies (NASDAQ:AXGT) last released its quarterly earnings results on Friday, August 9th. The company reported ($1.23) EPS for the quarter, beating analysts consensus estimates of ($1.34) by $0.11. As a group, equities research analysts expect that Axovant Gene Therapies will post -4.25 earnings per share for the current fiscal year.

Several large investors have recently made changes to their positions in the company. Tower Research Capital LLC TRC raised its stake in shares of Axovant Gene Therapies by 955.3% in the second quarter. Tower Research Capital LLC TRC now owns 4,221 shares of the companys stock worth $27,000 after purchasing an additional 3,821 shares during the last quarter. Jane Street Group LLC raised its position in Axovant Gene Therapies by 28.8% during the second quarter. Jane Street Group LLC now owns 46,455 shares of the companys stock valued at $289,000 after acquiring an additional 10,375 shares in the last quarter. Marshall Wace LLP purchased a new position in Axovant Gene Therapies during the first quarter valued at approximately $272,000. BlackRock Inc. purchased a new position in Axovant Gene Therapies during the second quarter valued at approximately $1,482,000. Finally, Sphera Funds Management LTD. purchased a new position in Axovant Gene Therapies during the first quarter valued at approximately $6,794,000. Hedge funds and other institutional investors own 13.48% of the companys stock.

Axovant Gene Therapies Company Profile

Axovant Gene Therapies Ltd., a clinical-stage gene therapy company, focuses on developing a pipeline of product candidates for debilitating neurological and neuromuscular diseases. The company's current pipeline of gene therapy candidates targets GM1 gangliosidosis, GM2 gangliosidosis, Parkinson's disease, oculopharyngeal muscular dystrophy, amyotrophic lateral sclerosis, and frontotemporal dementia.

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Axovant Gene Therapies (NASDAQ:AXGT) Downgraded to Hold at Zacks Investment Research - Slater Sentinel

Recommendation and review posted by Bethany Smith

WHEN Cassie Hylans gave birth to baby Freddie-Philip it was extra special.

Not just because it was the first time she had met her son, but because she knew he wouldn't live much longer.

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But nothing could have prepared the 27-year-old and her partner Steven Hale, 25, for that heartbreaking moment.

Cassie, from Burton upon Trent, Staffordshire, told DerbyshireLive: "As he took his last breath my partner dropped to his knees and screamed.

"It was the hardest thing you could ever go through.

"It was so surreal just watching it happen and not being able to do anything to help keep him alive."

The couple discovered at their 20-week scan that Cassie has a genetic condition called Kallmann Syndrome there was a 50 per cent chance it would be passed onto her baby.

It meant that he had no fluid around him and his kidneys were covered in cysts.

Cassie, a cleaner, said she was given some options - all of which she refused - and decided to continue with the pregnancy.

She said:"We knew he wouldnt survive but at the end of the day he was still my baby and I was growing him. I wanted to see his face and give him a cuddle. He was ours."

We knew he wouldnt survive but at the end of the day he was still my baby and I was growing him

Freddie-Philip was born breathing on November 29, 2016, and the family were able to spend "four hours of unexpected precious time" with him.

Cassie said:"I gave birth on the normal labour ward and we took tonnes of pictures, had cuddles with him and the vicar came and gave him a blessing. We still talk to her to this day.

"The nurses were amazing and gave us two teddies and a keepsake memory box with his hand and footprints in. It was really special."

The family were supported by staff at the Snowdrop Suite, a special unit for bereaved parents at Burton's Queen's Hospital.

Cassie said: "My mum and partner were there with me the whole way through and I cant remember that much because it was all a blur.

"We could spend as much time with him as we wanted the nurses left us to it and we were at the end of the labour ward so we didnt have to see new mums walking around with their babies."

The pair were able to keep Freddie-Philip with them in a special cuddle cot, but when the time came to return home, the new parents were devastated.

What is Kallmann syndrome?

Kallmann syndrome is a rare geneitc condition, characterised by delayed or absent puberty and an impaired sense of smell.

It is a form ofhypogonadotropic hypogonadism, which is a condition resulting from a lack of production of certain hormones that direct sexual development.

Males often have an unusually small penis and undescended testes and most don't develop secondary sex characteristics at puberty - such as the growth of facial hair, deeping of the voice.

In females the start of monthly periods and breast development is usually delayed or doesn't happen at all.

Without treatment, most affected men and women are unable to have biological children.

Kallmann syndrome can have a wide variety of additional signs and symptoms including a failure of one kidney to develop, abnormalities of bones in the fingers or toes, a cleft lip or palate, abnormal eye movements, hearing loss, and abnormalities of tooth development.

Some affected individuals have a feature called bimanual synkinesis, in which the movements of one hand are mirrored by the other hand.

It's more common in males than females.

Source: Genetic Home Reference

Cassie said: "It was so hard to go home.

"Everything was normal and his bedroom was fully kitted out waiting for him.

"Going there without him in our arms was heartbreaking and it was like our world had stopped."

Cassie said the tragedy did not put the couple off having another child and when they got pregnant with Bobby, who is now aged 23 months, they were "so happy."

2

She said: "The pregnancy was fine, but he only has one kidney.

"I was overwhelmed when Bobby was born.

"I felt heartbroken that he would never get to meet his big brother and he was the spitting image of Freddie-Philip.

"November will always be a very bittersweet month for me as Bobby was born at the start and Freddie was born at the end."

Cassie is full of praise for the midwives who cared for her following Freddie-Philip's death and said they were still welcome to access support at the Snowdrop Suite.

She said: "That time was so precious and without the staff at the hospital and the specialist suite we would not have been able to make such special memories.

WORKING MUM I gave birth on the hospital ward I run it was like Carry On Nurse

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"Baby loss awareness is so important and it should not be a taboo subject. I would rather people talk about it then ignore that it happened.

"Freddie-Philip was still here. He is still a person. He is my son."

The couple have shared their story to mark Baby Loss Awareness Week, which ends today.

Continued here:
We screamed as our baby boy took his last breath at four hours old after I gave birth knowing hed die - The Scottish Sun

Recommendation and review posted by Bethany Smith

A case study published in Leukemia and Lymphoma described a patient with a diagnosis of Waldenstrm Macroglobulinemia (WM) that had subsequently undergone histological transformation to refractory high grade B-cell lymphoma and was successfully treated with CD19-targeted chimeric antigen receptor (CAR)-T cell therapy.1

WMis a type of B-cell non-Hodgkin lymphoma(NHL), typically characterized by overproduction of monoclonal immunoglobulinM, as well as infiltration of malignant lymphoplasmacytic cells into the bonemarrow.

Although considered incurable, WM often follows an indolent course andsome patients can be asymptomatic for long periods. Rarely, the diseasetransforms into a more aggressive form of NHL that has been associated with apoor prognosis.

The patient described in the case studywas a 71-year-old man who was first diagnosed with WM in 1998. The patient wasmonitored without undergoing active treatment for a period of 12 years, atwhich time he developed anemia and splenomegaly. At that time, he underwenttreatment with 6 cycles of fludarabine and rituximab and achieved a partial response totreatment. Following a worsening of symptoms 4 years later, the patient wastreated with 6 cycles of bendamustine and rituximab.

Biopsyof an enlarged cervical lymph node performed at that time revealed high-gradeB-cell lymphoma that was clonally related to the previously seenlymphoplasmacytic infiltrate, consistent with transformation.

Thepatient subsequently achieved a complete response to 6 cycles of rituximab,cyclophosphamide, doxorubicin, vincristine, prednisone (R-CHOP) plus ibrutinibfollowed by 6 months of ibrutinib maintenance therapy that lasted for 18months.

Salvagetherapy included 2 cycles of rituximab, dexamethasone, cytarabine, cisplatin(R-DHAP) followed by 1 cycle of rituximab plus high-dose cytarabine, followedby autologous stem cell transplantation several months later.

Asthe patients disease was considered to be chemorefractory based on subsequent imagingand pathological analyses, he was treated with axicabtagene ciloleucel, aCD19-targeted CAR-T cell therapy currently approved for the treatment of adultpatients with relapsed or refractory large B-cell lymphoma, including high gradeB-cell lymphoma, after 2 or more lines of systemic therapy.2

Althoughthe patient experienced pancytopenia, grade 1 cytokine release syndrome, andgrade 1 neurotoxicity following CAR-T therapy, he achieved a complete response1 month following treatment.

Notably,there was no evidence of either underlying WM or transformed disease at 6 and 12months follow-up.

Thestudy authors noted that longer term follow up in this patient will beinformative, as late relapses have occurred even in patients who achieve a deepresponse after transplant. CAR-T cell therapy may be an effective treatment forrelapsed or refractory WM that has not yet undergone histologicaltransformation, as CD19 is almost universally expressed on lymphoplasmacyticlymphoma cells. The researchers concluded that further analysis of this iswarranted in the context of clinical trials.

References

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Benefit of CD19-Targeted CAR-T Therapy in Patients With Transformed Waldenstrm Macroglobulinemia - Cancer Therapy Advisor

Recommendation and review posted by Bethany Smith

BALTIMOREand PHILADELPHIA and IRVINE, Calif., Oct. 15, 2019 (GLOBE NEWSWIRE) -- WindMIL Therapeutics and the University of California, Irvine (UCI) today announced that the first patients have been identified in an investigator-sponsored study for the collection of bone marrow from patients with gliomas. The study will evaluate generating marrow infiltrating lymphocytes (MILs) for these patients through WindMILs proprietary cellular activation and expansion process. The study is being conducted at UCI.

Patients suffering with glioblastoma are in great need of new, promising treatments that might advance the current standard of care, said Daniela A. Bota, MD, PhD, director of theUCI Health Comprehensive Brain Tumor Program,seniorassociate dean for clinical research, UCI School of Medicine and clinical director, UCI Sue & Bill Gross Stem Cell ResearchCenter. The University of California, Irvine is excited toplay a key role in research that may lead to a clinical trial that enlists the immune system in novel ways to fight this terrible disease.

Gliomas are the most common of the malignant brain tumors. Glioblastoma, the most common glioma, has a five-year survival of less than 5 percent. Additional treatment options are urgently needed for these patients. Adoptive immunotherapy is a possible approach for gliomas and the use of MILs, a cell therapy that is naturally tumor-specific, is one such treatment option.

The bone marrow is a unique niche in the immune system to which antigen-experienced memory T cells traffic and are then maintained. WindMIL has developed a proprietary process to select, activate and expand these memory T cells into MILs. Because memory T cells in bone marrow occur as a result of the immune systems recognition of tumor antigens, MILs are specifically suited for adoptive cellular immunotherapy and are able to directly eradicate or facilitate eradication of each patients unique cancer. WindMIL is currently studying MILs in multiple myeloma, non-small cell lung cancer and squamous cell carcinoma of the head and neck, and plans to expand into other solid tumors.

WindMIL is looking forward to working with the University of California, Irvine on this exciting project and is optimistic that MILs may offer the potential to help patients with these hard-to-treat diseases, said Monil Shah, PharmD, MBA, Chief Development Officer at WindMIL.

About WindMIL Therapeutics

WindMIL Therapeutics is a clinical-stage company developing a novel class of autologous cell therapies based on marrow infiltrating lymphocytes (MILs) for cancer immunotherapy. As the leader in cellular therapeutics emanating from bone marrow, WindMIL translates novel insights in bone marrow immunology into potentially life-saving cancer immunotherapeutics for patients. WindMIL believes that Cell Source Matters and the companys proprietary process to extract, activate and expand these cells offers unique immunotherapeutic advantages, including inherent poly-antigen specificity, high cytotoxic potential and long persistence. For more information, please visit: http://www.windmiltx.com.

About UCI Health

UCI Healthcomprises the clinical enterprise of the University of California, Irvine. Patients can access UCI Health at primary and specialty care offices across Orange County and at its main campus, UCI Medical Center in Orange, California. The 417-bed acute care hospital provides tertiary and quaternary care, ambulatory and specialty medical clinics and behavioral health and rehabilitation services. UCI Medical Center features Orange Countys only National Cancer Institute-designated comprehensive cancer center, high-risk perinatal/neonatal program and American College of Surgeons-verified Level I adult and Level II pediatric trauma center and regional burn center. UCI Health serves a region of nearly 4 million people in Orange County, western Riverside County and southeast Los Angeles County. Follow us onFacebookandTwitter.

About the University of California, Irvine

Founded in 1965, UCI is the youngest member of the prestigious Association of American Universities. The campus has produced three Nobel laureates and is known for its academic achievement, premier research, innovation and anteater mascot. Led by Chancellor Howard Gillman, UCI has more than 36,000 students and offers 222 degree programs. Its located in one of the worlds safest and most economically vibrant communities and is Orange Countys second-largest employer, contributing $5 billion annually to the local economy. For more on UCI, visitwww.uci.edu.

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WindMIL Therapeutics and University of California, Irvine Announce Collaboration to Collect Bone Marrow from Patients with Gliomas to Develop Marrow...

Recommendation and review posted by Bethany Smith

Organizers of this years Light the Night, which is held in support of blood cancer research, hope members of the community can join them Oct. 19 as they take to the Rotary Trail to raise awareness and funds for the eradication of various blood cancers.

Leukemia, lymphoma, Hodgkins lymphoma and myeloma can all be beat, but for every inspirational tale of perseverance and survival, there are even more about those who could not hang on long enough and died as a result of the fast moving diseases that affect blood cells, bone marrow and lymph nodes to name a few.

I lost my niece to leukemia 11 years ago, she was 19, said Westlock organizer Joanne Rimmer, with tears in her eyes as fresh as the day she lost her niece.

I had positive thoughts the whole time, I thought she was going to get over it and everything was going to be back to normal and it didnt work out. I didnt want other families to go through that, so I thought it was a good thing to help raise money.

It has been 11 years and Im still crying. Its one way we can do something to say we really miss her.

Rimmer also has a close friend who was able to survive leukemia after a donation of stem cells from her brother saved her life. She also has another friend in Manitoba who is currently fighting off leukemia, with some success. These are her reasons for lighting up the night, so called because participants often hold lanterns of different colours that denote how thatindividual has been affected.

White lanterns are carried by survivors, gold is in remembrance and red is in support, which together makes for quite a sea of colour moving through the town.

Rimmer, who has been taking part in the event in one form or another for 11 years and helping to organize the Westlock event for the last six years is a proponent of having a bare-bones event with little flash or overhead to make sure as much money as possible is donated to the Leukemia and Lymphoma Society of Canada.

Any sponsors or potential contributors are asked to donate directly to the cause instead of providing other supports, which are appreciated, but ultimately unneeded.

I want every dollar that gets raised to actually go towards what were actually raising money for. I dont want to waste it on silly things.

Rimmer is urging those who want to participate to start collecting sponsors, and to register at http://www.lightthenight.ca. Participants should meet at the Rotary Spirit Centre after 6:30 p.m. Oct. 19 for the walk that will begin at 7 p.m., winding it way east on the Rotary Trail to the healthcare centre, then eventually on to the pool. All are welcome to join, from babies in strollers to their great-great parents, said Rimmer, who also noted the event will take place rain or shine.

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Light the Night Oct. 19 - Westlock News

Recommendation and review posted by Bethany Smith

Gaucher disease can predispose patients to rare types of blood cancer, and doctors should be vigilant for the development of these malignancies, a case report suggests.

The study, A case of bony lytic lesions in a patient with Gaucher disease, was published in the journal Clinical Case Reports.

The most common symptoms of Gaucher disease are reduced platelet count, enlarged liver and spleen, and lesions in the bones. This disease also has been associated with an increased risk ofblood disorders.

Researchers in Canada reported the case of a 57-year-old man who developed a rare type of blood cancer cell probably related to Gaucher disease, as he had Gaucher cells cells that accumulate abnormal amounts of a fat molecule (glucocerebroside) characteristic of the condition in his bone marrow.

The man had a scalp lesion that did not heal and progressively increased in size. Doctors performed a biopsy and discovered it was caused by a plasmacytoma, a rare form of blood cancer in which myeloma cells form a tumor in the bones or soft tissues.

At the time of biopsy, the patient had mild anemia, low levels of platelets, and a family of blood proteins called gamma globulins characteristic of myeloma. His kidney function and calcium levels were normal.

Further tests showed that the man had several bony lytic lesions spots of bone damage caused by cancerous myeloma cells and abone marrow biopsy showed infiltration of both plasma cells and Gaucher cells. That led to a diagnosis of plasma cell myeloma probably associated with Gaucher disease.

Gaucher cells infiltrating the bone marrow may mask the extent of abnormal plasma cell infiltrates, and immunohistochemical staining [a method that identifies abnormal cells in biopsies] can be invaluable in identifying the true burden of plasma cells for appropriate classification of suspected plasma cell neoplasia, the researchers said.

The investigators also noted that the man had a history of abnormal spleen size and reduced blood cell count. A bone marrow biopsy performed years earlier showed the presence of possible Gaucher cells.

Gaucher disease should be considered in the differential diagnosis of unexplained hepatomegaly [abnormal liver size], splenomegaly [abnormal spleen size], or cytopenias [reduced blood cell count], the investigators said. They added that further research of the previous symptoms might have allowed diagnosing Gaucher disease before the cancer appeared.

The patient received a combination of chemotherapy, cyclophosphamide, and Velcade (bortezomib), followed by high doses of melphalan and autologous stem cell transplantation. He tolerated the transplant well and was discharged with the recommendation of long-term follow-up.

Alejandra has a PhD in Genetics from So Paulo State University (UNESP) and is currently working as a scientific writer, editor, and translator. As a writer for BioNews, she is fulfilling her passion for making scientific data easily available and understandable to the general public. Aside from her work with BioNews, she also works as a language editor for non-English speaking authors and is an author of science books for kids.

Total Posts: 20

Ins Martins holds a BSc in Cell and Molecular Biology from Universidade Nova de Lisboa and is currently finishing her PhD in Biomedical Sciences at Universidade de Lisboa. Her work has been focused on blood vessels and their role in both hematopoiesis and cancer development.

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Gaucher Might Be LInked to Rare Types of Blood Cancer, Report Suggests - Gaucher Disease News

Recommendation and review posted by Bethany Smith

The study team invited and interviewed a total of 42 participants, including 7 parous and 7 nulliparous women from each of the three study countries; no participant declined to be interviewed. All interviews were recorded except for one, where the recording device failed and the interviewer took notes instead. Participants included 15 from the tramadol group (3 in Nepal, 8 in South Africa, and 4 in Vietnam), 16 from the ibuprofen/metoclopramide (ibu/met) group (7 in Nepal, 3 in South Africa, 6 in Vietnam), and 11 from the placebo group (4 in Nepal, 3 in South Africa, 4 in Vietnam). The median age of participants was 23 (range: 1844, IQR=20-32). Most participants in South Africa were single (n=13), while most participants in Nepal and Vietnam were married (Nepal: 11, Vietnam: 8) or partnered (Vietnam: 6). One-third of the sample had completed secondary school, and 64% had completed more than secondary school; 43% of participants were currently in school. All except 3 participants in South Africa lived in urban areas (see Table1). Food insecurity was reported by only one woman in Nepal, who responded that she often went without food in her household.

Among parous participants, the average number of previous pregnancies was 2 in Nepal, 1.7 in South Africa, and 3.1 in Vietnam. One-quarter of the sample reported having a previous abortion (only in Nepal and Vietnam), and three participants had previous MA experience. The average gestational age at presentation was 49days (SD: 7.8, range: 3463days); Nepal and Vietnam had similar averages (47 and 46days respectively) while South Africas average was 55days. On a 10-point scale, the average overall pain level reported with MA was 5.2 (SD: 2.5). The average highest pain in the first 8h after misoprostol was 6.6 (SD: 2.5), ranging from 6.1 in Nepal to 6.7 in Vietnam and 7.1 in South Africa. All participants had a successful medical abortion without any further treatment.

The following four themes emerged from the content analysis: pain and other side effects of the MA; medical abortion pain relative to menstrual, labor, and previous abortion pain; pain management; and emotional experiences (see Table2). We explore these four themes below.

Based on participant descriptions, we identified four types of pain trajectories. Ten respondents reported minimal pain overall (4 Nepal, 4 South Africa, 2 Vietnam). One said, I never had an abortion, so I was expecting more pain but there was no pain. It was just normal; I was doing the house chores I am used to doing (3135 y, South Africa, parous, placebo). Another explained, It wasnt painful at all, not even a little. There was no such feeling of pain. Only when the pregnancy started to discharge, there was a feeling of something coming out, like when Im on my period but there was absolutely no pain (3135 y, Vietnam, parous, tramadol).

Eight participants reported brief intense pain and said it occurred right before expulsion. One participant said, It hurt terribly, it hurt in a way that its very unlike any normal pain I had 30 minutes of intense pain, after that I felt better, then gradually it eased and then I could walk as usual (3135 y, Vietnam, parous, tramadol). Nine participants experienced intermittent pain, which some described as similar to labor contractions: It pained and disappeared and again pained and again disappeared (2125 y, Nepal, nulliparous, placebo). Another participant explained, I think its like labor pain, intermittent pain from light pain to heavy pain (3135 y, Vietnam, parous, ibu/met). And five participants described feeling constant pain for an hour up to several hours: The pains were like 10 for about 3 or 4 hours there was no change. The pains were constant (1820 y, South Africa, nulliparous, ibu/met). There were no distinct trends in pain trajectories by treatment group, age, parity, or country.

The most commonly reported symptoms were chills and shivering (12), nausea (9), vomiting (8), fever (8), and diarrhea (8), with no clear trends by parity, treatment group, or country. One participant said, I felt really cold, and I was shivering even when I was staying in the sun, it still felt cold (1820 y, Nepal, nulliparous, ibu/met). Another reported, Diarrhea was the most intolerable. It made my stomach gurgle and I felt nauseous so I needed to go to the bathroom constantly even though I felt cold and just wanted to stay in my bed the diarrhea and nausea were the worst (2125 y, Vietnam, nulliparous, tramadol). Five participants reported weakness and/or dizziness: I tolerated the pain for half an hour, it was all because of dizziness that I couldnt tolerate the pain (2125 y, Nepal, nulliparous, tramadol). Five participants said they had numbness or immobility (under the tongue or in the limbs). One woman described, it felt so numb with painI think it was because of the pills melting. I think they made me feel that way (3640 y, South Africa, parous, tramadol). Another said, There was no abdominal pain. Only my limbs, it felt like I cant handle it anymore, I felt paralyzedIt hurt terribly, it hurt in a way that its very unlike any normal pain, I have never experienced such kind of pain. My limbs couldnt even move (3135 y, Vietnam, parous, tramadol). All but one participant in Vietnam and over half of the Nepal participants (9) reported at least one symptom beyond pain, while only 6 participants in South Africa reported symptoms.

MA was reportedly more painful than menstruation for most participants who commented on the comparison regardless of parity or treatment group (23 vs. 9 who reported MA as less or similarly painful compared to menstruation) and less painful than labor (17 vs. 4 who reported MA as more or similarly painful compared to labor). Respondents compared overall pain of the current MA with pain in menstruation, labor, and previous abortion using one or more of the following factors: pain intensity, pain duration, associated symptoms and side effects, and response to pain medications. One woman ranked her experiences in terms of intensity and duration: the least painful was suction abortion, at level 7-8 but only for a short period of time. The second one would be the recent [medical] abortion, heavy bleeding hurt at level 9-10. Third one is my second labor, pain level was at 7-8 but lasted longer than the abortion. And my first labor hurt the most, pain level 9-10 and lasted incredibly long (3135 y, Vietnam, parous, ibu/met).

With regard to pain intensity, one participant said, This one wasnt that bad at all, I didnt even feel like I was doing an abortion, there wasnt a lot of pains. So the menstruation one is the worse one if I were to compare them (2125 y, South Africa, parous, ibu/met). In contrast, another said, the abortion gave me heavy painit was more painful than the period pains (3640 y, South Africa, parous, tramadol). Several participants who had previous abortions attributed lower pain levels in the current abortion to the use of pain medications: The bleeding was same on both times. But the pain was more in previous abortion than this time. I also didnt have much difficulty as I took [pain] medicine this timeMaybe that is why compared to the previous abortion I didnt feel much pain (2630 y, Nepal, parous, tramadol). Another said that just having pain medications easily available to her made the experience better: During my previous abortion, I wasnt told to do anything if I had pain. So this time I had medicine if I had pain, even though I didnt take it so it felt really good. Instead of going out and buying the medicine, when one has a packet with themselves they can easily take it (3640 y, Nepal, parous, ibu/met). One more explained, If I have to compare, [this time] was painful for less time while using medicine during my last abortionit was 6-7 on scale for 6-7 days. But this time even if the pain was 10 on scale, it got lessened after having medicine (3135 y, Nepal, parous, ibu/met).

Most parous participants explained that the pain intensity of labor was much higher than MA: It was nothing compared to my labor pain, because my labor pain was extremethe labor is the worst, then comes the suction abortion, finally the pain from this abortion using medicine (3135 y, Vietnam, parous, ibu/met). Another explained, labor pains were highermaybe 5 to 1. Labor pain 5 and abortion pain 1 (2125 y, South Africa, parous, tramadol).

Duration of pain in menstruation was shorter and typically predictable for most participants, whereas with MA, it was less predictable and occurred throughout the experience. One participant explained, For menstruation, it pains a little on the first day and then it doesnt pain. But during abortion, it was paining on the first day and on the third day (2630 y, Nepal, parous, tramadol). Another said, I dont get pain during every menstruationI feel pain for one day only. During abortion as well, I had pain for a day only. That is why I feel its the same (3135 y, Nepal, parous, ibu/met). Those who reported previous abortions often determined which experience was more painful by comparing duration of bleeding and pain. One participant said she preferred her previous MA to the current one because the time it took to expel the pregnancy was longer this time and her pain was delayed (4145 y, Vietnam, parous, placebo). Similarly in childbirth, participants attributed higher overall pain to a longer duration of pain: when I delivered my child, the whole day I felt like the time when I had my abortion (3135 y, Nepal, parous, ibu/met).

For many, the comparison of pain in MA with that of menstruation or labor was dependent on symptoms other than pain alone. For example, one participant said, My period pain is just normal, but [with MA] it was twisting and I had diarrhea and fever also, chills and shaking. Thats the difference (2125 y, Vietnam, nulliparous, tramadol). Another said, Normal delivery is painful because of many reasons, for example episiotomy.because theres no factors like that, MA is much less painful (4145 y, Vietnam, parous, placebo). Another added, With giving birth, beside labor pain, you suffer also from the tear of vagina afterward, which prolonged the pain. After the abortion, you only suffer for 1 day (2630 y, Vietnam, parous, ibu/met).

Ten participants (6 Vietnam, 4 Nepal) reported a previous abortion and compared it to their current experience. Some women explained that the lack of instruments helped reduce their pain or anxiety levels with the current MA compared to a previous surgical abortion. One woman said, this time hurt more than last time but was less scary because I didnt have to listen to the sound of the surgical tools, so there was less mental pain the clanking sound of surgical tools scared me (3135 y, Vietnam, parous, ibu/met). Another said it was much less painful, my psyche was much at ease, and it was more privateI feel quite embarrassed every time I have gynecology check. Like taking my clothes off and checking, thats what makes me feel not comfortable at all (3135 y, Vietnam, parous, ibu/met). Another who had experienced three surgical abortions highlighted the importance of supportive, non-judgmental providers:

In my other previous abortions there was just me in the room. The doctors were scary and the things they said really annoyed me, like I don't want to do this. It's just that you asked for it, so I felt very uncomfortable. I had to accept it. I had a wonderful consultation this time, I was able to do self-check at home, and I had my relatives next to me and also someone to talk to during the process. Time went by really fast. I felt stronger mentally not feeling like abandoned in the room like any of those previous abortionsthis time was more painful but more relieved. I felt safer since the surgical ones are scary, not as painful but much more scary. (31-35 y, Vietnam, parous, tramadol).

One participant said the current abortion was worse than her previous experience because she had an incomplete abortion that required her to have multiple follow-up visits (although she did not have additional treatment).

Most reported that the study medications eased MA pain. One participant said, Because they not only gave me medicine when I was in pain but before I had pain they had given me medicine. So I felt my pain got cured after taking medicine. I didnt have to take additional medicine (2125 y, Nepal, parous, tramadol). However, it was not always clear if participants were referring to the study medications or the additional analgesics taken as needed as being responsible for the pain relief. One respondent said, It was very satisfying because if it wasnt for the medication I would have slept in pain (2125 y, South Africa, nulliparous, tramadol). Another commented, After having the medicine, it lessened my pain and I felt like eating as well. I had a fear that if something might happen, after the pain was gone, I felt that I am fine now (3135 y, Nepal, parous, ibu/met).

For managing pain in general (not specific to MA), some South African women reported taking medications including paracetamol and aspirin; only a few women in Nepal and Vietnam reported taking medications for more extreme pain. A woman from Nepal said, If sometimes I have more pain and I have to go for duty, I take paracetamol. Otherwise I dont...If it is paining around 5, I take medicine (3640 y, Nepal, parous, ibu/met).

The use of non-medicinal methods for managing MA pain were most common in Nepal, and less so in South Africa and Vietnam. These methods were similar to those reported for menstrual pain, including most commonly wrapping a piece of cloth around ones abdomen (Nepal), eating or drinking hot foods and liquids (all countries), and using a hot water bottle or massage (all countries). One woman said, I was dependent on hot watermy husband used to give me water frequently. He boiled the water in a thermos and put a glass in front of me. I just took rest by drinking hot water (4145 y, Nepal, parous, ibu/met). Participants in Nepal and Vietnam also reported eating warm foods with protein, such as soup or eggs, to ease pain. One woman in Vietnam explained, Only my sister massaged me. She massaged and pressed on the area where I said was painful (3135 y, Vietnam, parous, tramadol). In South Africa, several women reported taking hot baths and lying flat on the floor to soothe the pain: I just lay down on a cold floor and they become better (3135 y, South Africa, parous, tramadol), and I just took a bath to relax my body (3135 y, South Africa, parous, tramadol).

One participant explained the use of a cloth wrap around the abdomen for menstrual pain:

Because there is just air in our stomach, [so] we have pain in stomach. That is why it gets better after wrapping a piece of cloth. ... I wrap it for 1-2 hours when I have pain. . When I wrap it like that it lessens my back pain as well. When I have menstrual period, we have stomach and back pain, so it also lessens that pain. I havent used any [medicine] to date. (2125 y, Nepal, parous, tramadol)

In South Africa, a participant said, I take the hot water bottle and I put it there or something that is warm and eventually I become okayit helps and sometimes it does notI sleep if nothing works (2125 y, South Africa, nulliparous, ibu/met). One respondent in Vietnam said she tried taking a menstrual regulation pill, a combination of herbal extracts containing traditional medications called Phu Huyet Khang in between periods to prevent pain: The next period, the pain was much less intense this medicine helps regulate the menstrual cycle (2125 y, Vietnam, nulliparous, placebo).

For managing labor pain, many reported walking, keeping busy, and massaging their bodies during labor; only three reported receiving pain medications for labor pain (one in South Africa and two in Vietnam). One woman said, my mother massaged me with oil all over my stomachmy mother told me that the pain might lessen if I stayed in a hanging positionbut I just stayed clenching my teeth (2630 y, Nepal, parous, tramadol). Another woman answered, Nothing, I was just walking and screaming (3135 y, South Africa, parous, placebo). A participant in South Africa said, With my first child I asked them to bring me black forest [cake]I would eat, when that pain comesI ate that thing almost twelve hours with my second-born I was betterI realized that I should nurse the pain. The more you walk the more you relieve stress (3640 y, South Africa, parous, tramadol).

Many participants said they felt conflicted or guilty about having an abortion, but no one expressed regret about the decision. One woman said, Half of me wanted to have an abortion and the other half wanted to keep the child, but I couldntI stayed strong and went forward because I could not just sit and let the pain take over, I had to get up and get going, as sitting and crying will not help (3135 y, South Africa, nulliparous, placebo). Another participant said, And after I had the abortion, I felt happy and securedI didnt feel anything emotionally. I didnt want this pregnancy, I only thought about how this pregnancy will go and I will feel relieved (3135 y, Nepal, parous, ibu/met). In Vietnam, one woman said, I feel like Im such a terrible human being for having an abortion (1820 y, Vietnam, nulliparous, ibu/met), and another explained, I feel guilty about what I have done, yet I think it was the best thing that we could do provided our situation (2125 y, Vietnam, nulliparous, placebo). Others were not emotional at all about the experience: I didnt have any feelings as such. I just wanted it to finish as quickly as possible (3135 y, Nepal, parous, ibu/met). Another explained, If I had thought of keeping it then I would have been emotional. But when I had thought of having abortion, then I didnt feel anything about it (Nepal, parous, tramadol, 2125y). One woman said, I just wanted to get rid of this pregnancy. Thats all I was thinking (2125 y, Nepal, nulliparous, placebo).

Most who struggled emotionally or were conflicted said their emotions did not affect their physical pain. However, many explained that having emotional support from family and friends during the process made them feel more secure and in some cases more physically at ease. One woman from Nepal said, If our husband is with us, then it will be a lot easier (2125 y, Nepal, nulliparous, tramadol). Another Nepali woman said, Because I was feeling really bad from inside, so my emotional pain was a lot more than my physical pain, so I think that was the reason that helped me to not focus on my physical pain (2125 y, Nepal, nulliparous, ibu/met). Several participants from Vietnam discussed the importance of family or partner support:

I think the mental state really affects how we feel during abortion. If were more relaxed, then we will feel less pain. Maybe I was unhappy and not so comfortable about this, so I felt more pain. if [patients] have someone to comfort them that would be the best mental remedy to reduce the pain (21-25 y, Vietnam, nulliparous, placebo).

I felt that I wasnt abandoned, so that pain was better...I can feel less scared even when my boyfriend just holds my hands (18-20 y, Vietnam, nulliparous, placebo).

Basically when you're taking that pill you'd better have someone next to you. That's for the best. Firstly, just in case something happens there would be someone next to you to calm you down and help you. Secondly, it's better to have someone to talk to rather than being alone (31-35 y, Vietnam parous, tramadol).

In South Africa, participants shared similar sentiments. One participant said, I cried a bit in the afternoon and at night I was fine because my friend was there (1820 y, South Africa, nulliparous, placebo), and another said, I dont think I would have coped [without mama]. Imagine if I had to go get the water on my own, get the pain killers, the water bottle, all of that (1820 y, South Africa, nulliparous, ibu/met).

Those who lacked support explained that it would have helped. One participant said, I contained everything within myself and I did not tell anyone, so I am thinking maybe if I had shared with someone I do not think I would have felt that much pain (2125 y, South Africa, nulliparous, ibu/met). Another explained:

I was the only one who knewThere was no one to help me, no one to talk to.I wish we had already been married so he could be by my side and everyone could know. If the pain got worse, everyone could have taken care of me or told me what to do. (2125 y, Vietnam, nulliparous, tramadol)

Women who had previous experience with abortion appeared more prepared psychologically to handle the MA pain. For example, one woman said, I accept that pain because I know it should happen like that. It is what I must accept because I had reckoned it before.because I was prepared beforehand, I already knew all the steps, the pain that I had to endure, I can mentally be ready to overcome it easilyso I can be less nervous (3135 y, Vietnam, parous, tramadol). Another said, I had to abort it anyhow so my focus was on abortion only. I felt normal as I had done abortion previous to this as well (3640 y, Nepal, parous, ibu/met).

Read more here:
Experiences with pain of early medical abortion: qualitative results from Nepal, South Africa, and Vietnam - BMC Blogs Network

Recommendation and review posted by Bethany Smith

Enthusiastic scientists aboard the research vessel MV Ocearch pumped their fists as a voice crackled over the radio announcing the expedition had hooked its 11th great white shark this fall off Nova Scotia.

But to some marine biologists, what unfolded recently on this non-profit research ship wasn't cause for celebration instead it raised ethical questions over methods used to attract and study the ocean predators.

About 30 minutes after it was hooked, a mature male its tail thrashing was brought alongside the converted American crab ship, as vessel captain Brett McBride leapt onto the submerged platform that raised the animal out of the ocean.

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The massive, 3.6-metre shark briefly reared its head in protest as the mariner manoeuvred it onto its side, causing the fish to suddenly go still amid the humming sound of the hydraulic lift.

A black cloth was placed over the shark's eyes, a tube pumped water through the gills and six scientists descended to the platform, allowing themselves 15 fast-paced minutes to take blood, parasite, muscle, fecal and semen samples.

Veterinarian Mike Hyatt of the New York Aquarium cut the shining white belly to install an acoustic tag, as University of Windsor research associate Dan Madigan drilled the satellite positioning tag referred to as a SPOT tag to the dorsal fin. It's this tag which will allows thousands of people who've downloaded an app to follow the shark's movements online.

But behind the excitement, an unresolved scientific debate has bubbled away over how sharks, notoriously sensitive to handling, are impacted.

During a briefing, Hyatt said blood tests taken at the beginning and end of such intense captures show the animal's stress levels don't rise. "What's quite astonishing ... is working with them out of the water their stress levels stay the same and sometimes actually improve," he explained.

However, while marine biologists interviewed by The Canadian Press concur with Hyatt's view of the shark's short-term reaction, they wonder what will happen to internal organs and reproductive systems in the months and years to come. Some shark researchers refuse to use the method.

At the federal Bedford Institute of Oceanography in Halifax, Heather Bowlby, the research lead at the federal Canadian Atlantic Shark Research Laboratory, has shifted away from systems that involves hooking sharks or bringing them aboard ships.

This season, her team used a lure to attract a four-metre female and then a harpoon to rapidly attach a pop-up archival tag near its dorsal fin.

The recording device will later detach and float to the surface and provide light, temperature and depth data that will help Bowlby study its habitat and habits.

"There's been a general shift in the shark research community to move away from bringing sharks on board a boat," she said in an interview. "All of their muscle is concentrated in their back and it does press down. They don't have a rib cage. They're not designed to be out of the water, and that's why we have moved to tagging inside the water."

Gregory Skomal, who leads a Massachusetts Division of Marine Fisheries study group off Cape Cod, says he uses a spotter plane and harpoon methods like Bowlby's "to minimize invasive handling."

He said he has questions about the impact of Ocearch's method. "It could be creating long-term problems for the future reproductive success of the animal .... It's an area that people are very worried about."

Chris Lowe, a veteran shark researcher with the University of California at Long Beach, says he observed the impact on a younger shark after he bolted a SPOT tag to it, and the fin bent over and deformed over time.

"At that point I elected not to use them any more due to damage to the fin .... I don't think we've developed a good enough tag design that's designed to come off or to minimize damage," he said.

Still, Lowe says this may not hold true of more mature sharks, and there are tradeoffs for scientists who don't use the Ocearch methods.

He says the pop-up tags he harpoons onto sharks are less accurate in tracking the sharks' precise journeys and he can't collect the volume of data on blood, genetics and parasites.

Meanwhile, Ocearch's method can combine the positioning provided by the SPOT tags with the archival depth and temperature information from the pop-off tags. It's a practice the group has used for females the last two years, providing a potentially rich source of data.

Chris Fischer, the expedition leader and founder of Ocearch, firmly disagrees with critics and says he's gathering "a whole suite" of valuable information widely available for scientists to examine and which will lead to improved fisheries management.

"These will be the most comprehensively studied individual white sharks in history here in Canada," he said during an interview after the expedition ended its work, which ran from Sept. 13 to Oct. 4 off Cape Breton and Lunenburg.

The precision of his tagging methods could help researchers locate the "holy grail" of the nursery where mature females reproduce and give birth, he said aboard his research ship.

Meanwhile, Robert Hueter, the chief scientist with Ocearch, says photos of great whites tagged in the eastern Pacific that were observed years later after the SPOT tags came off "show no significant effect on the shark or its dorsal fin."

The shark biologist at Florida's Mote Marine Laboratory says criticisms about unknown, long-term impacts are "speculation without data," and he notes that during the operation, their team does ultrasound imaging of internal organs and has found no evidence of damage.

"Finally, we put the resulting movements of our sharks on the Ocearch Tracker for all the world to see; clearly our sharks are moving as we know white sharks to do, south in winter and north in summer, with key stops along the way," he wrote in an email.

Still, Aaron MacNeil, the Canada Research Council chair in fisheries conservation at Dalhousie University, has become a critic of the scientific methodologies.

He recently raised the issue of the vessel fishing for sharks near waters where Nova Scotians surf and dive, saying he's concerned it could draw the animals closer to people.

"In my view, the federal Fisheries Department still needs to establish a safe distance for shark-fishing to occur relative to recreational users and exclude shark-fishing within this zone," he said.

Fischer contends that it is not that simple to alter shark behaviour.

A federal Fisheries Department spokeswoman said great white sharks are normally found in waters around Nova Scotia this time of year and in close proximity to coastal areas, and "therefore, it is considered that these research activities are unlikely to significantly increase risks."

Meanwhile, as the season wrapped up, Fischer said he intends to continue his relationship with the federal Fisheries Department, which has granted him permits under the Species At Risk Act and a foreign vessel license.

He says under the conditions of its permit, Ocearch will provide the federal authorities with its tracking information, along with blood, semen, diet, genetic and other valuable information.

"The question for DFO is 'Where do you need us to go next for you?'" said Fischer, noting he would like to return to Cape Breton next year to validate this year's findings.

Alain Vezina, the Maritimes region director of science at the federal Fisheries Department, declined a request for an interview. In written responses, the department said Ocearch is required to provide it with an outline of its activities and the tagging data they collect, and that the organization is to submit a report by the end of this year.

"The methods are intended to minimize any potential impacts to these sharks. Monitoring will be undertaken to ensure compliance with the permit conditions," the email from the communications department said..

This report by The Canadian Press was first published Oct. 14, 2019.

Continue reading here:
Great white tagging program off N.S. stirs debate over treatment of sharks - National Observer

Recommendation and review posted by Bethany Smith

As a cardiovascular genetic counselor with more than 15 years of experience, I know firsthand the critical importance of identifying genetic risk in a timely manner. Genetic counselors are in a unique position to help patients and their providers navigate medically complex genetic risk factors.

Everyday, genetic counselors are evaluating and providing guidance on the constantly evolving nature of genetic testing. With their advanced training in medical genetics and counseling, certified genetic counselors are able to provide state of the art services, accurately assess risk, identify the right genetic test, ensure correct interpretations of genetic test results and guide patient decision-making.

The National Institutes of Health recognizes that genetic counselors are trained to help patients and caregivers understand the scientific, emotional and ethical factors surrounding the decision to have genetic testing. Genetic counselors use their expertise to collaborate with healthcare providers on the best medical pathway forward for the patient, based on the test results.

Complex genetic tests are rapidly evolving, greatly magnifying the need for Medicare beneficiaries to have access to genetic counselors who can guide them through the complex testing process.

The Medicare program does not reimburse certified genetic counselors directly. Direct access to a certified genetic counselor would help ensure that more Medicare patients receive critical services in time to avoid costly complications and improve health outcomes. This is particularly true for seniors at risk of hereditary heart diseases, cancer or neurological conditions for these patients, genetic counseling is an essential service that is best delivered by a certified genetic counselor.

The Medicare program has not kept pace with changes in innovation and payment for genetic testing and counseling. Congress has an opportunity to address this program failure, and help beneficiaries, by adopting the Access to Genetic Counselor Services Act. The legislation would authorize the Centers for Medicare & Medicaid Services to recognize certified genetic counselors as health-care providers.

The proliferation of genetic testing is exploding, and will only continue to grow in the future. Medicare is expected to spend approximately $23 billion in the next ten years on these tests. Evidence indicates genetic counselors can help drive cost efficiencies by providing guidance about which genetic tests would be most beneficial depending on a patients situation and working with patients and their providers to determine if genetic testing is appropriate.

Genetic counseling services can also help ensure Medicare beneficiaries do not face avoidable complications and are not subjected to additional costs. And Medicare already covers genetic counseling, but the program only reimburses other practitioners to provide it.

To ensure access and address the complexity of genetic testing in appropriate medical care, the National Society of Genetic Counselors (NSGC) strongly supports the Access to Genetic Counselor Services Act introduced in Congress. Sponsored by Reps. Dave LoebsackDavid (Dave) Wayne LoebsackIowa Democrat tops Ernst in third-quarter fundraising for Senate race House Democrats targeting six more Trump districts for 2020 The House Republicans and Democrats not seeking reelection in 2020 MORE (D-Iowa) and Mike KellyGeorge (Mike) Joseph KellyAmerica's workers and small business owners need the SECURE Act House votes to repeal ObamaCare's 'Cadillac tax' GOP lawmaker: 'I'm a person of color. I'm white.' MORE (R-Pa.), the legislation would authorize CMS to recognize certified genetic counselors as health-care providers and reimburse certified genetic counselors for services delivered to Medicare beneficiaries at 85 percent of physician payment levels for the same services.

Research demonstrates that genetic counselors save health care dollars when involved in the testing process and can increase compliance with the recommended medical management plan all priorities as personalized medicine and genetic testing become more prevalent.

The National Society of Genetic Counselors, as well as more than 200 organizations, patients and health-care providers, strongly encourages Congress to enact the Access to Genetic Counselor Services Act, which can make a critical impact on the health of individuals and their families.

Amy Sturm is the president of the National Society of Genetic Counselors' Board of Directors and a professor and the director of Cardiovascular Genomic Counseling at the Geisinger Health System Genomic Medicine Institute.

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Genetic counselors save health care dollars when involved in the testing process | TheHill - The Hill

Recommendation and review posted by Bethany Smith

ALISO VIEJO, Calif., Oct. 15, 2019 /PRNewswire/ -- Ambry Genetics (Ambry), a leading clinical genetic testing lab, will present data at the American Society of Human Genetics (ASHG) annual conference this week from the first prospective study of paired RNA and DNA genetic testing for hereditary cancer risk, called +RNAinsight. The data from this study of the first 1,000 patients to receive +RNAinsight show a significant increase in diagnostic yield (identifying mutations in our DNA as disease-causing) compared to DNA testing alone. This is the first major increase in diagnostic yield for hereditary cancer risk in over 10 years. Through +RNAinsight, Ambry is the first and only lab to offer paired RNA and DNA genetic testing for hereditary cancer as a commercially available clinical test.

Standard DNA testing excludes large portions of DNA, thereby missing some mutations that cause increased risks for cancer. In addition, DNA testing for hereditary cancer risk can produce inconclusive results and fail to determine that a variant (an error in our DNA) increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection steps, or certain therapeutic treatments, and relatives may not be referred for genetic testing and subsequently may not be referred for necessary high-risk surveillance. Adding RNA to DNA testing overcomes these limitations for a substantial number of patients as RNA provides considerably more evidence than DNA alone about whether our DNA has variants that increase cancer risk.

At ASHG, Ambry will present data showing that +RNAinsight both (1) identified new variants that increased cancer risk and that would have been missed with DNA testing alone, and (2) determined whether certain variants actually increased cancer risk even though DNA testing alone would have been inconclusive and left doctors without this crucial information.

"Combining RNA and DNA genetic testing lets more people know they have genetic mutations that increase their risks for cancer, empowering them to take action to better manage their cancer risks," said Tyler Landrith, Ph.D., an Ambry scientist who will present the study. "+RNAinsight is the first major, genetic-testing advancement in over 10 years to increase diagnostic yield for hereditary cancer risk."

Dr. Landrith will present data from a prospective analysis of 1,000 patients who received RNA genetic testing (for up to 18 genes). The data show a relative increase in diagnostic yield of 9.1 percent more than DNA testing alone. Adding RNA genetic testing also resulted in a 5.1 percent relative decrease in the number of patients that would have received inconclusive results with DNA testing alone and would not have learned whether they had increased cancer risk.

The prospective study also validated the accuracy of +RNAinsight, establishing a large control dataset of healthy patients. This dataset allowed Ambry researchers to establish a baseline for benign and disease-causing mutations across the genes tested. Dr. Landrith will address the validation in his presentation.

In addition to the prospective study, Ambry Senior Research Associate Blair Conner, M.S., will present data at ASHG showing that RNA genetic testing provided additional evidence to clarify the interpretation of 15 complex variants in genes associated with increased risks for breast, ovarian, colorectal, uterine, and other cancers. Without RNA genetic testing, these variants would have remained inconclusive. This means that past, current, and future patients who otherwise would not have learned they have increased risks for these cancers will now have crucial information to more precisely tailor their medical management for the prevention, early detection, and treatment of cancer.

"An inconclusive result can be unsettling for patients, especially for patients with a strong family history of cancer. Both clinicians and patients may worry that current technology has missed disease-causing mutations in the genes tested," said Ms. Conner. "These data show how +RNAinsight was able to overcome the technological limitations of DNA genetic testing by turning inconclusive results into actionable information for clinicians to better guide patient care."

+RNAinsight is now available through doctors and genetic counselors around the country. For more information on RNA genetic testing, please go to http://www.ambrygen.com/RNAinsight.

For the full list of studies that will be presented at ASHG, please see below:

Oral Presentations:

Wednesday, October 16, 1:00PM - 2:00PM Session 112, Room 310A, Level 3, Convention Center Exome and RNA-based Sequencing Methods for Variant Interpretation to Improve Clinical Utility1:15PM | #197 High-throughput RNA splicing profile increases detection of clinically-actionable variants while reducing inconclusive results in patients with hereditary cancer predisposition. T. Landrith, B. Li, A. Cass, B.R. Conner, S. Wu, H. Vuong, S. Charpentier, J. Burdette, H. LaDuca, T. Pesaran, J. Rae-Radecki Crandall, H. Lu, B. Tippin-Davis, A. Elliott, R. Karam. 1:45PM | #225 Reclassification of splicing VUS in neurological disease genes via RNA-seq. S. Ichikawa, B.R. Conner, S. Wu, R. Karam.

Poster Presentations:

Poster# 990W: Wednesday October 16, 2:00PM - 4:00PMLeveraging tumor characteristics to predict germline variant pathogenicity in mismatch repair genes. S. Li, D. Qian, B.A., Thompson, S. Gutierrez, T. Pesaran, H. LaDuca, H. Lu, E.C. Chao, M.H. Black.

Poster# 2449T: Thursday October 17, 2:00PM - 4:00PMRNA-seq identifies structural variants in hereditary cancer genes. B. Conner, M. Richardson, F. Hernandez, T. Landrith, T., McBride, B. Tippin-Davis, R. Karam.

Poster#1454F: Friday October 18, 1:00PM - 3:00PMAccounting for splicing effects in known missense variants improves in silico prediction of deleterious effect. D. Qian, J., Clifford, A. Tchourbanov, Y. Tian, M.H. Black, H.M. Lu, Z. Zhu, S. Li.

ABOUT AMBRY GENETICsAmbry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visit ambrygen.com.

For more information on risk factors for hereditary cancer, please visit cancer.gov's fact sheet on hereditary cancer and genetic testing.

Press Contact:Liz Squirepress@ambrygen.com (202) 617-4662

View original content:http://www.prnewswire.com/news-releases/new-data-from-ambry-genetics-demonstrates-impact-of-first-major-advancement-in-over-10-years-to-increase-diagnostic-yield-in-genetic-testing-for-hereditary-cancer-risk-300938313.html

SOURCE Ambry Genetics

Read more here:
New Data from Ambry Genetics Demonstrates Impact of First Major Advancement in Over 10 Years to Increase Diagnostic Yield in Genetic Testing for...

Recommendation and review posted by Bethany Smith

While current national and international guidelines recommend genetic testing in women with breast cancer who have relevant family history or clinical criteria, patients with breast cancer and genetic pathogenic variants do not always have a positive family history, potentially leading to improper screening for at-risk women. A recentstudyinJAMA Oncologyestimated incremental lifetime effects, costs, and cost-effectiveness of multigene testing of all patients with breast cancer compared with the current practice of genetic testing (BRCA) based on family history or clinical criteria.

The microsimulation modeling study compared lifetime costs and effects of high-riskBRCA1/BRCA2/PALB2(multigene) testing of all unselected patients with breast cancer (strategy A) againstBRCA1/BRCA2testing based on family history or clinical criteria (strategy B). Both strategies were evaluated with United Kingdom (UK) and US populations.

Have you seen:GBCA breast MRI images - Part 1

Data were collected and analyzed from January 1, 2018 through June 8, 2019. Four large research studies supplied data from 11,836 patients in population-based BC cohorts (regardless of family history). The women in these cohorts were predominantly white and representative of a Western population ethnicity.

For the model, all women with breast cancer underwentBRCA1/BRCA2/PALB2testing in strategy A. In strategy B, only women with breast cancer fulfilling family history or clinical criteria underwentBRCAtesting.BRCA/PALB2carriers could undertake contralateral preventive mastectomy, whileBRCAcarriers could also choose to undergo risk-reducing salpingo-oophorectomy (RRSO). Those whose relatives were mutation carriers also underwent cascade testing. Unaffected relative carriers could undergo magnetic resonance imaging or mammographic screening, chemoprevention, or risk-reducing mastectomy for breast cancer risk and RRSO for ovarian cancer risk.

Here is the original post:
Is it cost-effective to do genetic testing on all women with breast cancer? - Contemporary Obgyn

Recommendation and review posted by Bethany Smith

As DNA sequencing becomes more common, providers face a dilemma over how much information they should reveal to their patients about their risks for untreatable conditions.

What providers need to know about genetic testing and other new clinical innovations

Clinics and research groups that perform genetic testing typically limit their reporting to 59 gene variants recommended by the American College of Medical Genetics and Genomics. The list includes certain disease-causing variants for heart disease or breast cancer, for example, but not variants for conditions that aren't treatable, such as amyotrophic lateral sclerosis or Alzheimer's disease. As such, test results usually include only information that is "medically actionable."

To some providers, this limitation makes sense. They argue that giving patients results about genetic traits that aren't fully understood or medically actionable could lead patients to seek unnecessary or harmful care, or worry about a disease they may never get.

For similar reasons, NIH's All of Us genetic testing research program doesn't plan on returning results to patients that researchers deem not to be actionable. Brad Ozenberger, genomics program director for All of Us, said, "We don't want to frighten people, have them potentially change medical care, unless we're really confident in that result."

Separately, Keith Stewart, director of the Mayo Clinic's Center for Individualized Medicine, said, "There is a risk of causing undue anxiety."

However, some providers argue researchers shouldn't pick and choose what genetic information they provide to their patients.

Robert Green, a geneticist and professor at Harvard Medical School, said, "It's their body and their DNA. We have a responsibility to scientific truth and clear communication."

Studies have found patients want this information as well. For example, a 2016 paper in the Journal of Genetic Counseling found that 72.5% of research participants surveyed wanted to receive all of their genetic testing resultseven those related to untreatable conditions.

Green published a separate study in the New England Journal of Medicine involving patients who were told they had a genetic risk of Alzheimer's disease. Although patients experienced "transient, modest distress," 98% said they would get their test results again.

Similarly, last year, Geisinger, a health system in Pennsylvania, started offering some patients information about their genetic risks for brain disorders, including some conditions that are largely untreatable, the Journal reports. Almost 90% of the patients said they wanted the results.

Sara Kirkland, a participant in Geisinger's sequencing program, said of the decision, "Am I total comfortable? No. But I'm rarely comfortable with any decision we reach because this stuff is really complex. I am willing to say that it is a responsible approach to take" (Evans/Wilde Mathews, Wall Street Journal, 10/4; Owens, "Vitals," Axios, 10/7).

More here:
If your DNA test reveals you're at risk of an untreatable condition, would you want to know? - The Daily Briefing

Recommendation and review posted by Bethany Smith

Color, the genetics testing company, is partnering with Alphabets health technology-focused subsidiary, Verily Life Sciences, to provide to the companys Baseline Health Study participants information from its genetic tests.

The emphasis from both companies is on providing actionable results.

While genetic testing services have caught the publics imagination for their ability to provide insights into an individuals ancestry, the technology has proven to be less effective in providing insights on health that are accurate enough to be clinically relevant.

Through the partnership, Project Baseline Health participants will be able to access Colors physician-ordered genomics testing services and the companys board-certified genetic counselors and pharmacists to help them understand what their genetic tests indicate about their risks for certain cancers and heart disease, and genes that can effect medication responses, the company said.

Offering the Color genetic testing services is another way Verily is trying to entice people into its attempt to provide a map of overall population health using the latest in data science and testing technologies.

Colors genetic tests can be ordered online with participants taking their own samples at home. Users then receive counseling over the phone and tests are done in a matter of weeks, according to the company.

By offering Colors consultation services, Verily is hoping to ensure that the genetic information that participants in its Baseline study are providing benefit individuals as well as the studys architects.

See the article here:
Verily, Alphabets other money-making, non-Google business, partners with Color on genetic analysis - TechCrunch

Recommendation and review posted by Bethany Smith

The average adult takes more than four medications and many of these medications are used to control issues originating from genetics. Phosphorus is the DNA testing platform that wants to revolutionize healthcare by encouraging people to take genetic tests well before they potentially get sick. The companys flagship product, PhosphorusOne, is an at-home genetic test using a saliva sample. The sample is then sent to the lab where scientists extract and sequence your DNA, to detect diseases that are caused by multiple genes including the eighty-three genes that lead to a variety of inherited cancers and the one hundred fifteen genes that are known to cause cardiovascular disease.

AlleyWatch sat down with Alex Bisignano to learn more about creating an accessible and affordable genetic test to improve healthcare and the companys future plans.

Tell us about the product or service that Phosphorus offers.

Phosphorus is pioneering the use of DNA testing for preventive medicine to transform healthcare. We help customers stay healthy by understanding their genetic risks for diseases, enabling them to take preventive action when necessary. We also provide a genetic testing platform that helps healthcare providers bring state-of-the-art preventative genomics solutions to patients.

How is Phosphorus different?

Most genetic testing is done following arcane medical guidelines. Typically, this means patients are offered very expensive tests only after theyve been diagnosed with a cancer, or heart condition, or worse have experienced a major medical incident. Our test is built on the newest (Next Generation Sequencing) technology and is at a price point where we can get patients tested before they get sick and help prevent these diseases. We also provide, what I believe, is the most comprehensive and actionable genetic test for your health.

What market does Phosphorus target and how big is it?

Phosphorus is targeting healthcare providers ranging from individual physician practices through large health systems to help them offer testing to their patient populations. We also offer a product the PhosphorusONE test that people can purchase on our website. This means anyone interested in taking a more proactive approach to their health by understanding their genetic risks for disease can do so.

What is the business model?

In addition to offering our test direct to consumers, we offer a private labeling option. We help healthcare providers offer genetic testing for preventative health, which is done at our laboratory in New Jersey for a fee per test. We also offer a technology and software license that enables larger providers to deploy our technology within their own laboratory facility for a licensing fee.

What inspired the start of Phosphorus?

My last company was a genomics company called Recombine (exited in 2016 for $85M to CooperSurgical). We provided genetic testing to fertility clinics. I noticed that while we were able to help more than 100K couples through their fertility journey, the scope of what we could test for and access to our testing was limited to the urban, wealthy, and highly-insured population. In fact, fewer than 5% of adults have ever had a genetic test for medical decision making. With Phosphorus, our goal is to make sure that everyone has access and that we are able to provide this access before they get sick, so we can prevent disease and suffering.

Who do you consider to be your primary competitors?

The major genetics laboratories out there are Invitae and Ambry Genetics. Theyre awesome companies that helped define the first part of the industry. But they follow a classical, guidelines-based reference lab model samples go to their lab when patients meet arcane medical guidelines (after patients are already sick). Our business model wants to change not just when testing is done (before patients get sick), but to help the hospitals and providers do it within their own laboratory or facility.

What are the milestones that you plan to achieve within six months?

In the past year, weve brought on our first half dozen laboratory partners, and we expect to double the number of institutions on our platform by mid-way through 2020. Most exciting we expect to launch our first partnership with a major health system in mid-2020 as well.

In the past year, weve brought on our first half dozen laboratory partners, and we expect to double the number of institutions on our platform by mid-way through 2020. Most exciting we expect to launch our first partnership with a major health system in mid-2020 as well.

What is the one piece of startup advice that you never got?

Everyone talks about the importance of building the right team. But what makes the right team, I believe, is different for every organization. Having a team that is resilient, that puts their trust in you, whether the challenges and successes is so important. Make sure you value the team and be intentional about praise and reward.

If you could be put in touch with anyone in the New York community who would it be and why?

Jim Simons The Simons Foundation. I greatly admire his push of basic science for the benefit of humanity. Id love to get his perspective on genomics both in whats possible and the reality of where we are today.

Why did you launch in New York?

This city is amazing and full of incredible opportunities. Just being here exposes the company to extra surface area for luck: meeting talent, investors, customers and more. The drive to improve and do more is embedded in our culture in large part due to the influence of NY.

Whats your favorite restaurant in the city?

This is the toughest question yet! Sadly, having been here 10 years, Ive learned not to get too attached. My longest-standing relationship is Dos Toros. I have it for lunch possibly every day.

Read this article:
Phosphorus Enables You to Take a Proactive Approach to Healthcare through Genetic Testing - AlleyWatch

Recommendation and review posted by Bethany Smith

Choosing a preventive double mastectomy wasnt easy for Nina Garcia. But after years of internal debate and genetic testing that revealed a likely higher risk for breast cancer, the Project Runway judge and editor-in-chief of Elle magazine got the surgery earlier this year. And now she says shes stronger and more grateful than ever before.

Garcia, who spoke to Know Your Value during Octobers Breast Cancer Awareness Month, said she questioned several times whether she was making the right decision to get the surgery.

Its such a difficult, personal choice, but I know I made the right call for me, said Garcia, who also wrote an essay about her journey for Elle in February.

I am proud of being proactive about my health, and the constant anxiety of will it be cancer this time? is gone, Garcia added. I also feel immensely grateful that I was able to take my health into my own hands.

Garcia spent years wrestling with the decision, however. Spurred by family history of breast cancer, she underwent genetic testing in 2015, which revealed she had a mutation to the BARD1 gene, which interacts with the more well-known BRCA1 gene.

Doctors believe the mutation increases cancer risk too, but data are scant so Garcia had no clear direction for her particular case. For three years, she was monitored and received additional tests. Results from January led Garcia and her doctors to move ahead with the preventive mastectomy.

Since the surgery, Ive learned to be thankful, Garcia said, for my own health, my family, my work, my friends. Every morning I remind myself of all the things Im thankful for. That morning list is helping me become stronger and a better person.

Garcia, a Colombian immigrant, is also grateful to have insurance that provided her with excellent care, as she knows many women around the world dont have that luxury. She is also hosting this years symposium and luncheon for the Breast Cancer Research Foundation, a charity that is the worlds largest private funder of breast cancer research.

Shes active in spreading in story because she learned that transparency is powerful. Garcia wants other women who may want to share their health struggles to know they dont have to be scared to appear vulnerable.

RELATED: How I learned to face my biggest fear and get genetic testing for breast cancer

I received more emails, texts, calls, and notes than I ever have in my life after announcing publicly, Garcia said. I thought I was inundated with support when I started as editor-in-chief of Elle, but the outpouring of love I received after announcing my decision to undergo surgery was simply unmatched.

Garcia added that she wants women to know that being diagnosed with breast cancer isnt a death sentence and a diagnosis is nothing to be ashamed of. We always need to remind ourselves that prevention is key. There is also a beautiful community of women out there, a community I could not be prouder to be part of."

Garcia found that community during her own health journey, which she said was invaluableand thats the approach she takes in her career, too.

I like to think that you are as good as your team, she said about her workplace management style. Ive learned to surround myself with people that I can trust, who will always tell me truth. I can count on them to be honest and transparent. I know that we will always be rowing in the same direction.

Read more from the original source:
Nina Garcia on life post-mastectomy: 'I've learned to be thankful' for every new day - NBCNews.com

Recommendation and review posted by Bethany Smith

Since the 1970s, genetic screening has been standard practice during pregnancy. The goal of this kind of genetic testing has historically been to understand the likelihood an embryo carries a heritable disease, the classic example being the recessive genes for autosomal recessive disorders like cystic fibrosis, sickle cell anemia, and Tay Sachs, or tests that determine developmental disorders like Down Syndrome. This allows parents to make informed choices about ending pregnancies and planning ahead for potential issues. But as genetic technologies develop and gene editing becomes more widely practiced the possibilities are not limited to observation. As Dr. Robert Klitzsman writes inDesigning Babies: How Technology is Changing the Way We Create Children, genetic testing in the context of IVF is already giving us a glimpse of the ways in which the proliferation of new technologies could affect the genome of future children and future generations. And its not all good news.

Klitzman, Director ofColumbia Universitys Masters of Bioethics Program, suggests that progress has not been accompanied by adequate oversight or regulation. What are the limits of genetic screening, genetic testing, and gene editing technologies? The answer has as much to do with what risks are deemed acceptable and what risks are not. Designer babies are no longer the stuff of science fiction, but would-be parents arent exactly in a DNA Build-a-Bear. A transition is underway and Klitzman believes that parents need to understand the bleeding edge of whats possible to have the necessary context to understand the technologies they are using even in the process of basic screenings.

Fatherly spoke to Dr. Klitzman about the current state of genetic testing and the potential risks of emerging technologies.

Expecting parents likely understand one side of genetic testing, screening for heritable diseases. But new technologies and new discoveries mean that we can do more with genetic information and with genes themselves than ever before. So what are the limits of the current technologies?

A few years ago people thought wed find the cancer gene or the fat gene. But now we know that for most common diseases and most complex traits there are many genes involved. Sure there are certain genes that increase the risk of cancer from, say, 5 or 10 percent. But in genetic screening for diseases people should realize that, for a lot of diseases, the world is more complicated than just screening an embryo.

So its the old debate: nature or nurture? The answer is both. For a lot of traits, genetics explains the part but not all of the risk of the disease. So you may undergo genetic testing or you may screen embryos and the child may still get certain diseases. So its not always foolproof.

But its better than nothing.

Its important for parents to get tested to see if they have recessive conditions particularly if its in their family. If anyone has cystic fibrosis in their family, they should be tested to know. If theyre a carrier, they should see if their spouse is a carrier. If anyone has breast cancer in their family, they should be tested to see if they have that mutation. I think people with sickle cell disease should be tested for that. I think any woman who is over 35 should have the embryo tested for down syndrome and other chromosomal abnormalities. So I think there are certain diseases.

But, through evolution, most diseases for which there is a very predictive genetic test tend to be rare. If there was a terrible gene that was wiping out people, it wouldnt be getting passed on. The only genes that get passed on are not going to be from really terrible mutations because they would kill the people and by and large they wouldnt have any kid.

Its interesting that you point out the limits of genetic testing technologies because youre also a strong advocate for increased access.

I think insurance should pay for genetic testing. If a couple is concerned because their cousin has cystic fibrosis or someone in their family has sickle cell disease and wants to get tested, that should be covered. It may not be covered now so I think thats another set of policies that need to change. And part of that I think there needs to be more genetic counseling, which insurance also doesnt cover. The laws havent kept up with the technology. Our technologies advanced way ahead of our legal system and our duty to understand and figure out what to do with that of ethical legal and social questions involved.

A lot of the thornier issues you write about involve preimplantation genetic diagnosis, which is genetic testing post-conception and prior to pregnancy in the context of IVF. How are the decisions made by would-be parents undergoing PGD different than the decisions being made in the context of normal genetic testing?

Right now, we genetically screen embryos. When a couple undergoes IVF, lets say they create eight embryos. Doctors could say, These four are the girls, these four are the boys. Now, lets say a family has a history of breast cancer or the mother has the BRCA gene which carries breast cancer. The doctors could say, These three embryos have breast cancer gene these five dont. And the couple can choose the ones that dont.

Also, increasingly couples can say, Well, I just want a boy. And that creates a number of ethical challenges as opposed to letting Mother Nature do whatever it would do.

So theres potential in that specific context to take action in a way thats not possible in typical screenings. How much of that action is embryo selection versus actual gene manipulation?

We can take genes out. Theres a gene associated with Huntingtons disease or the BRCA breast cancer gene. We now have the technology to take them out.But these technologies are still in an experimental phase. And Im concerned that theyll soon be made fairly widely available even though there still may be risks involved and people may or may not fully appreciate those risks.

A few years ago, a doctor in China used CRISPR to edit the genes of twin girls. That opened brought a lot of criticism but also raised awareness of what can be done with this technology.

Thats right. So what Dr. He Jiankui did is that he worked with fathers who had HIV. There was a concern that the father could potentially pass HIV onto the child. And so he took the embryo and disabled the CCR5 gene that is involved in letting HIV get into a cell. The problem is that when you disable that gene, the risk of getting HIV goes down but the risk of getting influenza getting in goes up as do other risks.

DNA consists of three billion molecules. Each of us is a shelf of books in an office that has three billion letters in them. Well, if you go in and rip out some letters, you want to make sure you rip out the right ones. And so it looks like Dr. He didnt do it so precisely. So in fact what he said he took out wasnt exactly what he took out. In other words, if a child is born and missing part of the DNA, that part might be the next gene thats involved for, say, brain development or something like that.

You need to be very, very careful.

Presumably, the ethical questions get more complicated when gene editing becomes a more widely available procedure.

Until 60 years ago, we didnt even know what DNA did. We now have the ability to identify genes and were increasingly finding genes that are associated with not only various diseases but also human traits those associated with blonde hair and blue eyes, those associated with height and perfect pitch.

I think CRISPR probably will be used for people wanting or not wanting certain socially desirable or undesirable traits in their children.

A Gattaca situation.

Yes, exactly.

This interview has been condensed and edited for clarity.

Original post:
Gene Editing Is Creating a New World of Designer Babies. Are We Ready For It? - Fatherly

Recommendation and review posted by Bethany Smith

U.S. Attorney's Office in the Eastern District of Louisiana issued the following announcement on Oct. 9.

The Justice Department announced today that UTC Laboratories, Inc. (RenRX) has agreed to pay $41.6 million, and its three principals, Tarun Jolly, M.D., Patrick Ridgeway, and Barry Griffith, have agreed to pay $1 million to resolve allegations that they violated the False Claims Act by paying kickbacks in exchange for laboratory referrals for pharmacogenetic testing and for furnishing and billing for tests that were not medically necessary. RenRX, a laboratory company headquartered in New Orleans, Louisiana, also agreed to a twenty-five year period of exclusion from participation in any federal health care program.

The payment of kickbacks in exchange for medical referrals undermines the integrity of our healthcare system. Todays settlement reflects the Department of Justices commitment to ensuring that taxpayer monies are well spent and not wasted on unnecessary medical testing, said Assistant Attorney General Jody Hunt of the Department of Justices Civil Division.

Healthcare fraud, in any incarnation, hurts patients, honest medical practitioners, and all of the nations taxpayers, said United States Attorney for the Eastern District of Louisiana Peter G. Strasser. The favorable resolution of this False Claims Act matter illustrates the collaborative efforts and firm commitment by our federal partners to use all available remedies, both civil and criminal, to address signs of waste and abuse by providers in our healthcare markets.

The government alleged that between 2013 and 2017, UTC and its principals offered and paid remuneration to physicians to induce the ordering of pharmacogenetic tests, purportedly in return for their participation in a clinical trial known as the Diagnosing Adverse Drug Reactions Registry (DART), clinical trial identifier NCT01970709. The government also alleged that UTC and its principals offered and paid remuneration, including sales commissions, to entities and individuals as part of the scheme, and furnished pharmacogenetic tests that were not medically necessary and billed the Medicare program.

Original source can be found here.

Read more from the original source:
ATTORNEY'S OFFICE OF LOUISIANA: Genetic Testing Company and Three Principals Agree To Pay $42.6 Million to Resolve Kickback and Medical Necessity...

Recommendation and review posted by Bethany Smith

Depressive disorders are among the most common conditions that disrupt lives. Fortunately, medications, psychotherapies, and lifestyle changes are usually successful in treating depression and related disorders, even if symptoms are not entirely eliminated. Sometimes people dont gain sufficient relief from treatment, or must try several medications before finding one that works well. In an age of exciting advances, including brain imaging and genetic testing, many doctors and patients reasonably hope that new technologies will offer answers. And in fact, for antidepressant choice, several companies sell genetic testing as a means to guide treatment. But do these tests work?

Genes determine some of our risk for depression and some of our response to treatment. However, no single gene or small number of genes determines much of either in the general population. And the few genes used in the current commercial test panels do not appear to be the key genes determining risk or response. Some of the genes tested are related to drug metabolism. These genes can affect drug levels in the blood, but generally dont predict clinical response. Other factors, including age, diet, hormonal state, gut bacteria, and any other concurrently taken drugs, are far more important in determining how a person metabolizes a drug and responds to treatment.

Most people with depression improve with careful evaluation of all of these factors, appropriate antidepressant choice and dosing according to expert guidelines, as well as follow-up care to monitor treatment response and address any side effects. Currently, there is no scientific evidence that gene tests are needed or would be helpful as part of those assessments.

A dozen studies focusing on patients with depressive disorders have reported outcomes from using commercially available gene test panels to guide antidepressant choice. Most studies were completely unblinded that is, doctors and patients knew a special test was given. Even with that bias, the use of gene results showed no evidence of effectiveness. A few studies were partially blinded, but doctors and patients still knew some patients got a special test. In these studies, too, the tests failed to show value on their key measures of efficacy.

Notably, many patients had not responded well before entering a study because they were receiving inappropriate treatments. They improved when switched to more standard treatments. However, the same changes would have been made without guidance from the test if the treating clinicians had simply followed good practice, rather than getting an unproven and expensive genetic test. And our ongoing review of newer studies on these tests suggests similar flaws and no further evidence favoring their use.

Against this background, experts with no financial interest in genetic testing have repeatedly recommended that genetic tests should not be used in choosing treatments for depression (see here and here). The American Psychiatric Association convened a task force that reviewed the evidence and agreed: the tests should not be ordered.

Recently, the FDA advised that the tests had no proven value and should not be used. Then they went two steps further, stating that use of the tests could lead to inappropriate treatment choices that might harm patients. Additionally, the FDA sent a warning letter to one company and has contacted others selling the tests, advising them that they cannot legally make specific recommendations to clinicians or patients based on their test results.

Genetic testing is appealing, both to vulnerable patients and time-constrained doctors. And it is vigorously marketed to both parties by the companies that sell it: through news reports, websites, television, and magazines, and to doctors in their offices. There are few restraints that hold that marketing to the facts, yet the facts are clear in evidence summarized by numerous experts and agencies. Currently available genetic test panels have no proven value for choosing antidepressant treatment, and their use risks providing inappropriate care. So, while gene testing can be very useful for some other conditions, notably some cancer treatments, that success does not yet apply in treating depression. Perhaps this will change with more research, but appropriate tests are years away.

In the meantime, there are many good and effective actions to take if treatment is not working well. You and your doctor can

When a medication change is needed, the clinician treating you should follow available guidelines (such as these) or help you obtain a consult from a mental health professional who is more knowledgeable about psychiatric medications. Psychiatry consultations are available at most hospitals and clinics; some hospitals offer these consults by phone or through their websites.

See the article here:
Gene testing to guide antidepressant treatment: Has its time arrived? - Harvard Health Blog - Harvard Health

Recommendation and review posted by Bethany Smith

When Angelina Jolie broke the news about her genetic testing results, a new day dawned for cancer treatment. By opening up about her medical decisions to prevent cancer before it started, she shone a bright light on the positives and negatives of genetic testing for cancer.

So why did she do it?

Research has shown that up to 10% of cancers are caused by factors passed from one generation to the next. These syndromes are known as hereditary cancers, and genetic tests can determine a persons risk for developing these cancers.

Medical professionals get concerned when we see red flags for hereditary cancers that include family members with:

A diagnosis of cancer at a young age.

Several family members with cancer.

Relatives with more than one type of cancer.

A history of different cancers in the same person.

Rare or unusual cancers, such as ovarian cancer, pancreatic cancer, or male breast cancers.

Ashkenazi or eastern European ancestry.

There are many benefits to getting tested, regardless of the eventual result. If one of your family members had cancer, there is a chance that you inherited a gene mutation that not only increases your personal risk of cancer, but also could be passed to the next generation. Those who are carriers of hereditary cancer gene mutations could be at risk of getting cancer earlier in life than the general population. The sooner genetic testing is done, the more likely it is that the risk can be managed appropriately.

If you have had cancer at a young age, a rare cancer, or if cancer occurs frequently in your family, genetic testing may be an important first step for you. If a greater-than-average risk of cancer is found, there are a number of things you and your health-care professional can do to manage that risk.

You might be advised to have more frequent screening to help detect cancer at an earlier, more treatable stage and improve cancer survival. Your health-care professional may recommend preventive strategies, including risk-reducing medications or surgeries, that may reduce your risk of developing cancer. You and your health-care professional can make more informed decisions on your treatment options.

Test results can help your relatives learn more about the inherited risk and how it may affect them.

In addition, family members who do not carry mutations that increase their cancer risk may avoid unnecessary medical interventions. These results also provide valuable information for use in customizing medical management plans, can help your health-care professional make a timely and accurate diagnosis and assist your health-care professional in making important decisions about the management of your disease.

Genetic testing is not for everyone, but if you or your family members have any of the red flags mentioned above, call patient navigators Catherine Gaines or Windy Christy at Gibson Prevention Center to schedule an appointment for further evaluation at 910-671-5357.

Christy

Windy Christy is a physician assistant and patient navigator with Gibson Prevention Center at SeHealths Gibson Cancer Center.

Link:
A genetic cancer risk test is a valuable preventative tool - The Robesonian

Recommendation and review posted by Bethany Smith

Verily Life Sciences, Alphabet's health research arm and sister company to Google Health, announced it'spartnering with genetics and health technology firm Color to supply participants of Verily's Project Baseline research platform with genetic information. Business Insider Intelligence

Project Baseline began in 2017 with goals of making clinical research more accessible to participants and arriving at a quantifiable "baseline" for good health. The research project has since launched several clinical research projects in partnership with some of the largest names in healthcare, including: Pfizer, Mayo Clinic, Novartis, the American Heart Association, and Stanford Medicine.

The partnership could enable Verily to incorporate data on genetic risk factors into its various clinical studies, leading to a more in-depth and holistic understanding of health.It's unclear exactly how information gleaned from Color's genetic tests will be leveraged in Project Baseline studies, but it's possible that future research initiatives may choose to examine how genetic risk factors affect health outcomes alongside patients' behavior and medical history.

And allowing Project Baseline members access to genetic testing and personalized health advice may improve participant engagement with the particular research program they're involved in and with the Project Baseline platform overall, which is critical given that86%of clinical trials fail to hit their participation goals.

We caught up with Color CEO Othman Laraki to discuss how a Verily-Color tie up furthers Color's goals for a genetic future of healthcare below are some key takeaways from our conversation:

We think Color will benefit from the exposure that comes when partnering with a Google-affiliated business, and more users should facilitate stronger population health insights.In the last two months, Color has scored massive partnerships with NIH and its All of Us program and now Verily: two major names in healthcare. And each new project raises not just Color's profile, but that of the genetic testing field as a whole, according to Laraki.

Laraki pointed out that the idea of every home having a personal computer was once considered crazy and that one day it may be the case that genetic data is as commonplace in healthcare as computers are in the home. But this might only be possible if far-reaching research programs like All of Us and Project Baseline can successfully attract participants and deliver actionable results.

Color has become a standout player in genetic testing by focusing on large-scale population health projects which I (Zach) think is a smart business model in the face of apotential slowdownin the direct-to-consumer genetic testing market."In some ways, using a doctor's time to measure your height and have them listen to your heartbeat is almost more expensive now than getting a complete genomic profile," says Laraki.

And the fact that genetic testing is becoming cheaper for consumers could be part of why we're seeing so much interest from providers and research firms in population-level genetic health research: MIT Technology Review now estimates that over100 millionpeople globally will have taken an at-home genetic test by 2021, up from the 26 million consumers at the beginning of 2019, for example.

With industry leaders like Illumina expressing concerns around a potential slowdown for the direct-to-consumer genetic testing market, a model that's given rise to 23andMe and Ancestry the two biggest names in genetic testing today I think that Color's model will conversely gain traction as providers are increasingly becominginterestedin moving beyond individual patient results and searching for the root cause of conditions affecting their communities.

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Alphabet-backed Verily partners with Color to bring genetic insights to its research - Business Insider Nordic

Recommendation and review posted by Bethany Smith

WALTHAM, Mass.--(BUSINESS WIRE)--PerkinElmer, Inc., a global leader committed to innovating for a healthier world, today introduced its PG-Seq Rapid Non-Invasive Preimplantation Genetic Testing for Aneuploidy (PGT-A) kit. This solution tests spent embryo culture media for chromosomal abnormalities during in vitro fertilization (IVF) treatment.

PGT-A is used to identify viable embryos, so the transfer or storage of embryos with an incorrect number of chromosomes can be avoided, as those typically lead to failed IVF cycles. Traditionally, PGT-A requires a biopsy of a developing embryo by creating an opening in the outer coating prior to removal and testing of a few cells. However, recent studies have shown that an embryo releases small amounts of DNA into the culture media in which it is growing, allowing the surrounding fluid to be genetically tested instead.

PerkinElmers PG-Seq Rapid Non-Invasive PGT-A kit is specifically designed for this type of sample, which enables embryos to remain fully intact. Leveraging the science behind PerkinElmers biopsy-based PG-Seq kit 2.0, the new non-invasive kit tests the spent embryo culture media to accurately detect aneuploidies, as well as structural rearrangements, including unbalanced translocations and segmental errors.

The kit is a modified version of the new PG-Seq Rapid kit, a three-hour sample preparation workflowless than half of the sample preparation time compared to the PG-Seq kit 2.0 workflow.

Data from a global network of 15 laboratories who have provided samples, shows it is possible to achieve more than 90% correlation between results of biopsied embryo and spent embryo culture media with the PG-Seq Rapid Non-Invasive PGT kit, said Masoud Toloue, Ph.D., vice president, Diagnostics, PerkinElmer. By eliminating the risks associated with performing a cell biopsy, PGT-A becomes more broadly accessible. IVF providers can significantly increase the likelihood of successful embryo transfers and reduce time to pregnancy.

From what weve observed so far, the results look excellent, and we are looking forward to further developing our non-invasive PGT program, said Manuel Viotti, PhD, senior scientist, Zouves Foundation for Reproductive Medicine, Zouves Fertility Center.

PerkinElmer will showcase the PG-Seq Rapid Non-Invasive PGT-A kit and other next-generation workflow solutions at the 75th annual American Society for Reproductive Medicine (ASRM) Scientific Congress, October 12-16, in Philadelphia.

For more information, please visit booth #901 at ASRM or click here.

About PerkinElmerPerkinElmer enables scientists, researchers and clinicians to address their most critical challenges across science and healthcare. With a mission focused on innovating for a healthier world, we deliver unique solutions to serve the diagnostics, life sciences, food and applied markets. We strategically partner with customers to enable earlier and more accurate insights supported by deep market knowledge and technical expertise. Our dedicated team of about 13,000 employees worldwide is passionate about helping customers work to create healthier families, improve the quality of life, and sustain the wellbeing and longevity of people globally. The Company reported revenue of approximately $2.8 billion in 2018, serves customers in more than 180 countries, and is a component of the S&P 500 index. Additional information is available through 1-877-PKI-NYSE, or at http://www.perkinelmer.com.

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PerkinElmer Launches PG-Seq Rapid Non-Invasive Preimplantation Genetic Testing Kit as Alternative to IVF Embryo Biopsies - Business Wire

Recommendation and review posted by Bethany Smith

Updated: May 25, 2018:

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Investigations Newsletter: Genetic Testing Company and Three Principals Settle FCA Allegations for $42.6 Million - JD Supra

Recommendation and review posted by Bethany Smith

The child was critically ill. The treating team at Childrens National Hospital in Washington, DC, was stumped and worried that time was running out. Every test was coming back negative.

Genetics was called in to look for chromosomal mutations that might suggest the source of the problems. The geneticist recommended whole-exome sequencing, which tells a story based not only on all of the childs genes, but on two additional sources as well: the mothers and the fathers genes.

They found something they werent looking for. The father, the worried man in the waiting room who raised this child, wasnt the biological father. In genomics its called an incidental finding, and it raises huge ethical questions: Do you reveal this to the parents? Only to the mother? Or, if the results dont affect the childs care, do you even tell anyone?

In this case, the team called on the hospitals ethics committee for help.

I think withholding information can feel paternalistic, [genetic counselor Monisha Samanta] Kisling says. We dont want to say, Hey, I dont think you can handle this information. Thats not necessarily our judgment call to make. Overall, its just a really, really tough decision.

Read full, original post: Youre Not the Father: A Moral Dilemma in Genetic Testing

Read more:
'Really tough decision': What should doctors do when genetic testing reveals that dad isn't the child's biological father? - Genetic Literacy Project

Recommendation and review posted by Bethany Smith