Category Archives: Transhuman News

Personalized medicine, also known as precision medicine or genomic medicine, is one of the most revolutionary trends shaping the future of healthcare. What is personalized medicine? The simple definition is that it's the customization of care to an individual's genetic profile. Several publicly traded companies stand out as leaders in the field.

Exact Sciences (NASDAQ: EXAS), Illumina (NASDAQ: ILMN), and Vertex Pharmaceuticals (NASDAQ: VRTX) are pioneers in personalized medicine -- each in a different way. Here's why I think these are the three best stocks in personalized medicine right now.

Image source: Getty Images.

Exact Sciences markets the CologuardDNA screening test for colorectal cancer. Cologuard has enjoyed the strongest product launch of any diagnostic test ever, with more than 450,000 people screened since late 2014. But there's much more potential growth. There are around 80 million patients in the U.S. alone who need to be tested for colorectal cancer, but many don't get tested because they don't want a colonoscopy. Exact Sciences hopes to capture around 30% of that market.

Cologuard should continue to drive Exact Sciences stock higher in the near future, but over the long run there are even more opportunities. Exact Sciences is collaborating with the Mayo Clinic to develop a platform for early detection of cancer by identifying DNA methylation markers. (Addition of methyl groups to DNA changes gene expression and potentially lead to cancer.) Significant progress has already been made in what could be a huge new market for Exact Sciences.

Although Exact Sciences isn't profitable yet, it's headed in the right direction. Analysts project the company will grow earnings by an average annual rate of 68% over the next five years. That seems quite possible with Cologuard continuing to pick up momentum.

Illumina is the leader in genomic sequencing, an essential tool that makes the personalized medicine revolution possible. The company began operations in 1998 and launched its first DNA sequencing system in 2007. Since then, Illumina's technological innovations havereduced the cost of sequencing by a factor of more than 10,000 and have reduced sequencing time per gigabase by a factor of approximately 3,500.

The company is continuing its track record of innovation with its recent launch of the NovaSeq sequencing system. Illumina thinks that the NovaSeq architecture could lead to reducing the cost of human genome mapping to $100, which would open up genomic sequencing to more customers than ever before. Selling more systems would be great news for Illumina, but the added consumables revenue would be even better: The company makes around two-thirds of its total revenue from consumables sales.

As a well-established company now, Illumina might not enjoy the tremendous growth that it did in the early days of genomic sequencing. However, Wall Street analysts still estimate that Illumina will grow earnings by an average annual rate of 14% over the next several years, thanks in large part to great prospects for NovaSeq.

Vertex Pharmaceuticals is leading the way in the use of personalized medicine to fight cystic fibrosis (CF). The company won U.S. regulatory approval in 2012 for its first drug, Kalydeco, as a treatment for CF patients with theG551D mutation. Another approval came in 2014 for CF patients with one of 10 other genetic mutations.In 2015, Vertex received approval for Kalydeco in treating children ages two to five with specific gene mutations that cause CF.

While Kalydeco has been successful, Vertex's biggest opportunities lie with other CF drugs. Vertex is still finalizing reimbursement arrangements in several European nations for Orkambi, but Orkambi has already become the company's top-selling product. Even greater prospects could be in store for a combination of Kalydeco and tezacaftor, for which Vertex plans to file for approval in the third quarter of 2017.

Analysts think that Vertex can grow its earnings by nearly 65% annually over the next five years. Although the stock looks expensive right now with shares trading at 39 times expected earnings, Vertex remains a good pick for investors with that kind of growth potential.

10 stocks we like better than Vertex Pharmaceuticals

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David and Tom just revealed what they believe are the 10 best stocks for investors to buy right now... and Vertex Pharmaceuticals wasn't one of them! That's right -- they think these 10 stocks are even better buys.

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Excerpt from:
3 Best Stocks in Personalized Medicine - Madison.com

Using gene sequencing tools, scientists from Johns Hopkins Medicine and the University of British Columbia have found a set of genetic mutations in samples from 24 women with benign endometriosis, a painful disorder marked by the growth of uterine tissue outside of the womb. The findings, described in the May 11 issue of the New England Journal of Medicine, may eventually help scientists develop molecular tests to distinguish between aggressive and clinically "indolent," or non-aggressive, types of endometriosis.

"Our discovery of these mutations is a first step in developing a genetics-based system for classifying endometriosis so that clinicians can sort out which forms of the disorder may need more aggressive treatment and which may not," says Ie-Ming Shih, M.D., Ph.D., the Richard W. TeLinde Distinguished Professor in the Department of Gynecology & Obstetrics at the Johns Hopkins University School of Medicine and co-director of the Breast and Ovarian Cancer Program at the Johns Hopkins Kimmel Cancer Center.

Endometriosis occurs when tissue lining the uterus forms and grows outside of the organ, most often into the abdomen. The disease occurs in up to 10 percent of women before menopause and half of those with abdominal pain and infertility problems. In the 1920s, Johns Hopkins graduate and trained gynecologist John Sampson first coined the term "endometriosis" and proposed the idea that endometriosis resulted when normal endometrial tissue spilled out through the fallopian tubes into the abdominal cavity during menstruation.

The new study, Shih says, challenges that view. The presence of the unusual set of mutations they found in their tissue samples, he says, suggests that while the origins of endometriosis are rooted in normal endometrial cells, acquired mutations changed their fate.

For reasons the researchers say are not yet clear, the mutations they identified have some links to genetic mutations found in some forms of cancer. They emphasize that although abnormal tissue growth in endometriosis often spreads throughout the abdominal cavity, the tissue rarely becomes cancerous except in a few cases when ovaries are involved.

For the study, Shih and his colleagues sequenced -- or figured out the genetic alphabet -- a part of the genome known as the exome, which contains all of the genes that can be expressed and make proteins. Specifically, they sequenced the exome of both normal tissue and endometriosis tissue removed during laparoscopic biopsies on 24 women, some with more than one abnormal endometrial growth. All had deep infiltrating endometriosis, the type that typically causes pain and infertility.

Seven of the 24 women were from Japan; the rest were patients at Lenox Hill Hospital-Northwell Health in New York City. The use of samples from Japanese women was selected because endometriosis before menopause occurs more often in Asian women (13-18 percent) than in Caucasian women (6-10 percent), Shih says.

The scientists looked for mutations, or abnormal changes in the DNA, and filtered out normal variations in genes that commonly occur among humans. Of the 24 women, 19 had one or more mutations in their endometriosis tissue that were not present in their normal tissue.

The type and number of mutations varied per endometriosis lesion and between each of the women. The most common mutations, occurring in five of the women, occurred in genes including ARID1A, PIK3CA, KRAS and PPP2R1A, all known for controlling cell growth, cell invasion and DNA damage repair.

Mutations in these genes have been associated with one of the deadliest types of ovarian cancer, called clear cell carcinoma. Nickolas Papadopoulos, Ph.D., professor of oncology and pathology at the Johns Hopkins Kimmel Cancer Center, led the team that completed the first sequencing of the clear cell ovarian cancer genome in 2010.

"We were surprised to find cancer-linked genes in these benign endometriosis samples because these lesions do not typically become cancer," says Papadopoulos, whose Ludwig Center laboratories performed the sequencing. "We don't yet understand why these mutations occur in these tissues, but one possibility is that they could be giving the cells an advantage for growth and spread."

In an additional group of endometriosis samples biopsied from 15 women at the University of British Columbia, the scientists looked specifically for mutations in the KRAS gene, whose expression signals proteins that spur cell growth and replication. They found KRAS mutations in five of the 15 patients.

The scientists make clear that their sequencing studies may have missed mutations in some of the samples. Their data do not at this point reveal the aggressiveness of the lesions.

However, Shih says, he and his team are working on additional studies to determine if the mutations correlate with patients' outcomes. He says a molecular test that sorts lesions as more or less aggressive has the potential to help doctors and patients decide how to treat and monitor the progression and control of the disease. "We may also be able to develop new treatments for endometriosis that use agents that block a gene-related pathway specific to a person's disease," says Shih.

Women with endometriosis are typically prescribed anti-hormonal treatments that block estrogen to shrink lesions. When the disease occurs in the ovaries and forms a large cyst, which increases the risk of developing ovarian cancer, the lesion is usually surgically removed.

See the article here:
Gene sequencing study reveals unusual mutations in endometriosis - Science Daily

Two new studies presented at the Annual Scientific Meeting of the American Urological Association (AUA) offer an improved understanding of some genetic underpinnings of prostate cancer. In one, researchers found that BRCA mutations may raise the risk of the malignancy substantially, while another found a high rate of mutations among other DNA repair genes as well.

These studies reveal new insights into the role genetic mutations play in the development of prostate cancer, particularly metastatic disease, said Scott Eggener, MD, of the University of Chicago Medicine, who moderated the session with these studies, in a press release.

One study focused on male carriers of BRCA genes; previous work has shown increased risk for various cancers, but there are currently no screening guidelines for this population of men. The study was presented by Roy Mano, MD, of Rabin Medical Center in Petah Tikva, Israel.

The study included 154 men known to be BRCA mutation carriers; 92 of them (60%) had BRCA1 mutations, 61 (40%) had BRCA2 mutations, and 1 had a mutation in both genes. Twenty-four participants (16%) were diagnosed with cancer upon enrollment or during initial screening, and they had a median age at diagnosis of 55 years.

Four patients had multiple malignancies; seven patients (8%) had prostate cancer with a BRCA1 mutation, and three (5%) had prostate cancer with a BRCA2 mutation. The researchers noted that these rates appear substantially higher than in the general population for this age group; also, these results suggest that prostate cancer risk may not be restricted to BRCA2 mutation carriers, as previous work has shown.

In the other study, presented by Allison Glass, MD, of the University of California, Davis, researchers analyzed samples from 936 localized and metastatic prostate cancers to study the distribution of DNA repair gene mutations.

Of the full cohort, 228 samples (24.4%) showed at least one likely functional mutation of a DNA repair gene. Those mutations were found in 20.1% of prostate tumors, and in 18.8% of bone metastases, and the highest rates of DNA repair mutations were seen in visceral metastases including brain, pelvis, and liver.

The genes most commonly mutated included BRCA2 (11% of samples), ATM (6.6%), MSH6 (2.5%), MSH2 (2%), ATR (1.6%), MLH1 (1.3%), and BRCA1 (1.2%). The authors noted that genomic profiling could potentially identify prostate cancer patients that are sensitive to platinum-based chemotherapy or to PARP inhibition.

For some patients, a detailed understanding of these mutations could have a meaningful impact on the timely diagnosis and treatment of their disease, Eggener said.

Read more from the original source:
AUA: Prostate Cancer Studies Highlight DNA Repair Gene Involvement - Cancer Network